Buchumschlag

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals from 28 (26 unrelated) families. In addition, 25/47 affected individuals (53%) pr...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Richard, Elodie M. (VerfasserIn) , Bakhtiari, Somayeh (VerfasserIn) , Marsh, Ashley P. L. (VerfasserIn) , Kaiyrzhanov, Rauan (VerfasserIn) , Wagner, Matias (VerfasserIn) , Shetty, Sheetal (VerfasserIn) , Pagnozzi, Alex (VerfasserIn) , Nordlie, Sandra M. (VerfasserIn) , Guida, Brandon S. (VerfasserIn) , Cornejo, Patricia (VerfasserIn) , Magee, Helen (VerfasserIn) , Liu, James (VerfasserIn) , Norton, Bethany Y. (VerfasserIn) , Webster, Richard I. (VerfasserIn) , Worgan, Lisa (VerfasserIn) , Hakonarson, Hakon (VerfasserIn) , Li, Jiankang (VerfasserIn) , Guo, Yiran (VerfasserIn) , Jain, Mahim (VerfasserIn) , Blesson, Alyssa (VerfasserIn) , Rodan, Lance H. (VerfasserIn) , Abbott, Mary-Alice (VerfasserIn) , Comi, Anne (VerfasserIn) , Cohen, Julie S. (VerfasserIn) , Alhaddad, Bader (VerfasserIn) , Meitinger, Thomas (VerfasserIn) , Lenz, Dominic (VerfasserIn) , Ziegler, Andreas (VerfasserIn) , Kotzaeridou, Urania (VerfasserIn) , Brunet, Theresa (VerfasserIn) , Chassevent, Anna (VerfasserIn) , Smith-Hicks, Constance (VerfasserIn) , Ekstein, Joseph (VerfasserIn) , Weiden, Tzvi (VerfasserIn) , Hahn, Andreas (VerfasserIn) , Zharkinbekova, Nazira (VerfasserIn) , Turnpenny, Peter (VerfasserIn) , Tucci, Arianna (VerfasserIn) , Yelton, Melissa (VerfasserIn) , Horvath, Rita (VerfasserIn) , Gungor, Serdal (VerfasserIn) , Hiz, Semra (VerfasserIn) , Oktay, Yavuz (VerfasserIn) , Lochmuller, Hanns (VerfasserIn) , Zollino, Marcella (VerfasserIn) , Morleo, Manuela (VerfasserIn) , Marangi, Giuseppe (VerfasserIn) , Nigro, Vincenzo (VerfasserIn) , Torella, Annalaura (VerfasserIn) , Pinelli, Michele (VerfasserIn) , Amenta, Simona (VerfasserIn) , Husain, Ralf A. (VerfasserIn) , Grossmann, Benita (VerfasserIn) , Rapp, Marion (VerfasserIn) , Steen, Claudia (VerfasserIn) , Marquardt, Iris (VerfasserIn) , Grimmel, Mona (VerfasserIn) , Grasshoff, Ute (VerfasserIn) , Korenke, Christoph (VerfasserIn) , Owczarek-Lipska, Marta (VerfasserIn) , Neidhardt, John (VerfasserIn) , Radio, Francesca Clementina (VerfasserIn) , Mancini, Cecilia (VerfasserIn) , Claps Sepulveda, Dianela Judith (VerfasserIn) , McWalter, Kirsty (VerfasserIn) , Begtrup, Amber (VerfasserIn) , Crunk, Amy (VerfasserIn) , Guillen Sacoto, Maria J. (VerfasserIn) , Person, Richard (VerfasserIn) , Schnur, Rhonda E. (VerfasserIn) , Mancardi, Maria Margherita (VerfasserIn) , Kreuder, Florian (VerfasserIn) , Striano, Pasquale (VerfasserIn) , Zara, Federico (VerfasserIn) , Chung, Wendy K. (VerfasserIn) , Marks, Warren A. (VerfasserIn) , van Eyk, Clare L. (VerfasserIn) , Webber, Dani L. (VerfasserIn) , Corbett, Mark A. (VerfasserIn) , Harper, Kelly (VerfasserIn) , Berry, Jesia G. (VerfasserIn) , MacLennan, Alastair H. (VerfasserIn) , Gecz, Jozef (VerfasserIn) , Tartaglia, Marco (VerfasserIn) , Salpietro, Vincenzo (VerfasserIn) , Christodoulou, John (VerfasserIn) , Kaslin, Jan (VerfasserIn) , Padilla-Lopez, Sergio (VerfasserIn) , Bilguvar, Kaya (VerfasserIn) , Munchau, Alexander (VerfasserIn) , Ahmed, Zubair M. (VerfasserIn) , Hufnagel, Robert B. (VerfasserIn) , Fahey, Michael C. (VerfasserIn) , Maroofian, Reza (VerfasserIn) , Houlden, Henry (VerfasserIn) , Sticht, Heinrich (VerfasserIn) , Mane, Shrikant M. (VerfasserIn) , Rad, Aboulfazl (VerfasserIn) , Vona, Barbara (VerfasserIn) , Jin, Sheng Chih (VerfasserIn) , Haack, Tobias B. (VerfasserIn) , Makowski, Christine (VerfasserIn) , Hirsch, Yoel (VerfasserIn) , Riazuddin, Saima (VerfasserIn) , Kruer, Michael C. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 7 October 2021
In: The American journal of human genetics
Year: 2021, Jahrgang: 108, Heft: 10, Pages: 2006-2016
ISSN:1537-6605
DOI:10.1016/j.ajhg.2021.08.003
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.ajhg.2021.08.003
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S0002929721003025
Volltext
Verfasserangaben:Elodie M. Richard, Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty, Alex Pagnozzi, Sandra M. Nordlie, Brandon S. Guida, Patricia Cornejo, Helen Magee, James Liu, Bethany Y. Norton, Richard I. Webster, Lisa Worgan, Hakon Hakonarson, Jiankang Li, Yiran Guo, Mahim Jain, Alyssa Blesson, Lance H. Rodan, Mary-Alice Abbott, Anne Comi, Julie S. Cohen, Bader Alhaddad, Thomas Meitinger, Dominic Lenz, Andreas Ziegler, Urania Kotzaeridou, Theresa Brunet, Anna Chassevent, Constance Smith-Hicks, Joseph Ekstein, Tzvi Weiden, Andreas Hahn, Nazira Zharkinbekova, Peter Turnpenny, Arianna Tucci, Melissa Yelton, Rita Horvath, Serdal Gungor, Semra Hiz, Yavuz Oktay, Hanns Lochmuller, Marcella Zollino, Manuela Morleo, Giuseppe Marangi, Vincenzo Nigro, Annalaura Torella, Michele Pinelli, Simona Amenta, Ralf A. Husain, Benita Grossmann, Marion Rapp, Claudia Steen, Iris Marquardt, Mona Grimmel, Ute Grasshoff, G. Christoph Korenke, Marta Owczarek-Lipska, John Neidhardt, Francesca Clementina Radio, Cecilia Mancini, Dianela Judith Claps Sepulveda, Kirsty McWalter, Amber Begtrup, Amy Crunk, Maria J. Guillen Sacoto, Richard Person, Rhonda E. Schnur, Maria Margherita Mancardi, Florian Kreuder, Pasquale Striano, Federico Zara, Wendy K. Chung, Warren A. Marks, Clare L. van Eyk, Dani L. Webber, Mark A. Corbett, Kelly Harper, Jesia G. Berry, Alastair H. MacLennan, Jozef Gecz, Marco Tartaglia, Vincenzo Salpietro, John Christodoulou, Jan Kaslin, Sergio Padilla-Lopez, Kaya Bilguvar, Alexander Munchau, Zubair M. Ahmed, Robert B. Hufnagel, Michael C. Fahey, Reza Maroofian, Henry Houlden, Heinrich Sticht, Shrikant M. Mane, Aboulfazl Rad, Barbara Vona, Sheng Chih Jin, Tobias B. Haack, Christine Makowski, Yoel Hirsch, Saima Riazuddin, Michael C. Kruer

MARC

LEADER 00000caa a2200000 c 4500
001 178624635X
003 DE-627
005 20230428030421.0
007 cr uuu---uuuuu
008 220117s2021 xx |||||o 00| ||eng c
024 7 |a 10.1016/j.ajhg.2021.08.003  |2 doi 
035 |a (DE-627)178624635X 
035 |a (DE-599)KXP178624635X 
035 |a (OCoLC)1341436916 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Richard, Elodie M.  |e VerfasserIn  |0 (DE-588)1249707730  |0 (DE-627)1786246228  |4 aut 
245 1 0 |a Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss  |c Elodie M. Richard, Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty, Alex Pagnozzi, Sandra M. Nordlie, Brandon S. Guida, Patricia Cornejo, Helen Magee, James Liu, Bethany Y. Norton, Richard I. Webster, Lisa Worgan, Hakon Hakonarson, Jiankang Li, Yiran Guo, Mahim Jain, Alyssa Blesson, Lance H. Rodan, Mary-Alice Abbott, Anne Comi, Julie S. Cohen, Bader Alhaddad, Thomas Meitinger, Dominic Lenz, Andreas Ziegler, Urania Kotzaeridou, Theresa Brunet, Anna Chassevent, Constance Smith-Hicks, Joseph Ekstein, Tzvi Weiden, Andreas Hahn, Nazira Zharkinbekova, Peter Turnpenny, Arianna Tucci, Melissa Yelton, Rita Horvath, Serdal Gungor, Semra Hiz, Yavuz Oktay, Hanns Lochmuller, Marcella Zollino, Manuela Morleo, Giuseppe Marangi, Vincenzo Nigro, Annalaura Torella, Michele Pinelli, Simona Amenta, Ralf A. Husain, Benita Grossmann, Marion Rapp, Claudia Steen, Iris Marquardt, Mona Grimmel, Ute Grasshoff, G. Christoph Korenke, Marta Owczarek-Lipska, John Neidhardt, Francesca Clementina Radio, Cecilia Mancini, Dianela Judith Claps Sepulveda, Kirsty McWalter, Amber Begtrup, Amy Crunk, Maria J. Guillen Sacoto, Richard Person, Rhonda E. Schnur, Maria Margherita Mancardi, Florian Kreuder, Pasquale Striano, Federico Zara, Wendy K. Chung, Warren A. Marks, Clare L. van Eyk, Dani L. Webber, Mark A. Corbett, Kelly Harper, Jesia G. Berry, Alastair H. MacLennan, Jozef Gecz, Marco Tartaglia, Vincenzo Salpietro, John Christodoulou, Jan Kaslin, Sergio Padilla-Lopez, Kaya Bilguvar, Alexander Munchau, Zubair M. Ahmed, Robert B. Hufnagel, Michael C. Fahey, Reza Maroofian, Henry Houlden, Heinrich Sticht, Shrikant M. Mane, Aboulfazl Rad, Barbara Vona, Sheng Chih Jin, Tobias B. Haack, Christine Makowski, Yoel Hirsch, Saima Riazuddin, Michael C. Kruer 
264 1 |c 7 October 2021 
300 |a 11 
336 |a Text  |b txt  |2 rdacontent 
337 |a Computermedien  |b c  |2 rdamedia 
338 |a Online-Ressource  |b cr  |2 rdacarrier 
500 |a Gesehen am 17.01.2022 
520 |a Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals from 28 (26 unrelated) families. In addition, 25/47 affected individuals (53%) presented with microcephaly, developmental delay/intellectual disability, cerebral palsy, and/or epilepsy. Modeling indicated damaging effect of variants on the protein, largely via destabilizing effects on protein domains. Brain imaging revealed diminished cerebral volume, thin corpus callosum, and periventricular leukomalacia, and quantitative volumetry demonstrated significantly diminished white matter volumes in several individuals. Immunofluorescent imaging in rat hippocampal neurons revealed localization of Spata5l1 in neuronal and glial cell nuclei and more prominent expression in neurons. In the rodent inner ear, Spata5l1 is expressed in the neurosensory hair cells and inner ear supporting cells. Transcriptomic analysis performed with fibroblasts from affected individuals was able to distinguish affected from controls by principal components. Analysis of differentially expressed genes and networks suggested a role for SPATA5L1 in cell surface adhesion receptor function, intracellular focal adhesions, and DNA replication and mitosis. Collectively, our results indicate that bi-allelic SPATA5L1 variants lead to a human disease characterized by sensorineural hearing loss (SNHL) with or without a nonprogressive mixed neurodevelopmental phenotype. 
650 4 |a AAA+ superfamily 
650 4 |a ATPase 
650 4 |a cerebral palsy 
650 4 |a epilepsy 
650 4 |a intellectual disability 
650 4 |a movement disorder 
650 4 |a neurodevelopmental disorder 
650 4 |a sensorineural hearing loss 
650 4 |a SPATA5L1 
700 1 |a Bakhtiari, Somayeh  |e VerfasserIn  |4 aut 
700 1 |a Marsh, Ashley P. L.  |e VerfasserIn  |4 aut 
700 1 |a Kaiyrzhanov, Rauan  |e VerfasserIn  |4 aut 
700 1 |a Wagner, Matias  |e VerfasserIn  |4 aut 
700 1 |a Shetty, Sheetal  |e VerfasserIn  |4 aut 
700 1 |a Pagnozzi, Alex  |e VerfasserIn  |4 aut 
700 1 |a Nordlie, Sandra M.  |e VerfasserIn  |4 aut 
700 1 |a Guida, Brandon S.  |e VerfasserIn  |4 aut 
700 1 |a Cornejo, Patricia  |e VerfasserIn  |4 aut 
700 1 |a Magee, Helen  |e VerfasserIn  |4 aut 
700 1 |a Liu, James  |e VerfasserIn  |4 aut 
700 1 |a Norton, Bethany Y.  |e VerfasserIn  |4 aut 
700 1 |a Webster, Richard I.  |e VerfasserIn  |4 aut 
700 1 |a Worgan, Lisa  |e VerfasserIn  |4 aut 
700 1 |a Hakonarson, Hakon  |e VerfasserIn  |4 aut 
700 1 |a Li, Jiankang  |e VerfasserIn  |4 aut 
700 1 |a Guo, Yiran  |e VerfasserIn  |4 aut 
700 1 |a Jain, Mahim  |e VerfasserIn  |4 aut 
700 1 |a Blesson, Alyssa  |e VerfasserIn  |4 aut 
700 1 |a Rodan, Lance H.  |e VerfasserIn  |4 aut 
700 1 |a Abbott, Mary-Alice  |e VerfasserIn  |4 aut 
700 1 |a Comi, Anne  |e VerfasserIn  |4 aut 
700 1 |a Cohen, Julie S.  |e VerfasserIn  |4 aut 
700 1 |a Alhaddad, Bader  |e VerfasserIn  |4 aut 
700 1 |a Meitinger, Thomas  |e VerfasserIn  |4 aut 
700 1 |a Lenz, Dominic  |d 1984-  |e VerfasserIn  |0 (DE-588)1047559943  |0 (DE-627)778553914  |0 (DE-576)401159140  |4 aut 
700 1 |a Ziegler, Andreas  |d 1979-  |e VerfasserIn  |0 (DE-588)134123530  |0 (DE-627)560894201  |0 (DE-576)278444253  |4 aut 
700 1 |a Kotzaeridou, Urania  |e VerfasserIn  |0 (DE-588)1070020834  |0 (DE-627)823189996  |0 (DE-576)429699948  |4 aut 
700 1 |a Brunet, Theresa  |e VerfasserIn  |4 aut 
700 1 |a Chassevent, Anna  |e VerfasserIn  |4 aut 
700 1 |a Smith-Hicks, Constance  |e VerfasserIn  |4 aut 
700 1 |a Ekstein, Joseph  |e VerfasserIn  |4 aut 
700 1 |a Weiden, Tzvi  |e VerfasserIn  |4 aut 
700 1 |a Hahn, Andreas  |e VerfasserIn  |4 aut 
700 1 |a Zharkinbekova, Nazira  |e VerfasserIn  |4 aut 
700 1 |a Turnpenny, Peter  |e VerfasserIn  |4 aut 
700 1 |a Tucci, Arianna  |e VerfasserIn  |4 aut 
700 1 |a Yelton, Melissa  |e VerfasserIn  |4 aut 
700 1 |a Horvath, Rita  |e VerfasserIn  |4 aut 
700 1 |a Gungor, Serdal  |e VerfasserIn  |4 aut 
700 1 |a Hiz, Semra  |e VerfasserIn  |4 aut 
700 1 |a Oktay, Yavuz  |e VerfasserIn  |4 aut 
700 1 |a Lochmuller, Hanns  |e VerfasserIn  |4 aut 
700 1 |a Zollino, Marcella  |e VerfasserIn  |4 aut 
700 1 |a Morleo, Manuela  |e VerfasserIn  |4 aut 
700 1 |a Marangi, Giuseppe  |e VerfasserIn  |4 aut 
700 1 |a Nigro, Vincenzo  |e VerfasserIn  |4 aut 
700 1 |a Torella, Annalaura  |e VerfasserIn  |4 aut 
700 1 |a Pinelli, Michele  |e VerfasserIn  |4 aut 
700 1 |a Amenta, Simona  |e VerfasserIn  |4 aut 
700 1 |a Husain, Ralf A.  |e VerfasserIn  |4 aut 
700 1 |a Grossmann, Benita  |e VerfasserIn  |4 aut 
700 1 |a Rapp, Marion  |e VerfasserIn  |4 aut 
700 1 |a Steen, Claudia  |e VerfasserIn  |4 aut 
700 1 |a Marquardt, Iris  |e VerfasserIn  |4 aut 
700 1 |a Grimmel, Mona  |e VerfasserIn  |4 aut 
700 1 |a Grasshoff, Ute  |e VerfasserIn  |4 aut 
700 1 |a Korenke, Christoph  |e VerfasserIn  |0 (DE-588)111485479  |0 (DE-627)486911063  |0 (DE-576)289703840  |4 aut 
700 1 |a Owczarek-Lipska, Marta  |e VerfasserIn  |0 (DE-588)1206268239  |0 (DE-627)1692259423  |4 aut 
700 1 |a Neidhardt, John  |e VerfasserIn  |0 (DE-588)1204516464  |0 (DE-627)1689878584  |4 aut 
700 1 |a Radio, Francesca Clementina  |e VerfasserIn  |4 aut 
700 1 |a Mancini, Cecilia  |e VerfasserIn  |4 aut 
700 1 |a Claps Sepulveda, Dianela Judith  |e VerfasserIn  |4 aut 
700 1 |a McWalter, Kirsty  |e VerfasserIn  |4 aut 
700 1 |a Begtrup, Amber  |e VerfasserIn  |4 aut 
700 1 |a Crunk, Amy  |e VerfasserIn  |4 aut 
700 1 |a Guillen Sacoto, Maria J.  |e VerfasserIn  |4 aut 
700 1 |a Person, Richard  |e VerfasserIn  |4 aut 
700 1 |a Schnur, Rhonda E.  |e VerfasserIn  |4 aut 
700 1 |a Mancardi, Maria Margherita  |e VerfasserIn  |4 aut 
700 1 |a Kreuder, Florian  |e VerfasserIn  |4 aut 
700 1 |a Striano, Pasquale  |e VerfasserIn  |4 aut 
700 1 |a Zara, Federico  |e VerfasserIn  |4 aut 
700 1 |a Chung, Wendy K.  |e VerfasserIn  |4 aut 
700 1 |a Marks, Warren A.  |e VerfasserIn  |4 aut 
700 1 |a van Eyk, Clare L.  |e VerfasserIn  |4 aut 
700 1 |a Webber, Dani L.  |e VerfasserIn  |4 aut 
700 1 |a Corbett, Mark A.  |e VerfasserIn  |4 aut 
700 1 |a Harper, Kelly  |e VerfasserIn  |4 aut 
700 1 |a Berry, Jesia G.  |e VerfasserIn  |4 aut 
700 1 |a MacLennan, Alastair H.  |e VerfasserIn  |4 aut 
700 1 |a Gecz, Jozef  |e VerfasserIn  |4 aut 
700 1 |a Tartaglia, Marco  |e VerfasserIn  |4 aut 
700 1 |a Salpietro, Vincenzo  |e VerfasserIn  |4 aut 
700 1 |a Christodoulou, John  |e VerfasserIn  |4 aut 
700 1 |a Kaslin, Jan  |e VerfasserIn  |4 aut 
700 1 |a Padilla-Lopez, Sergio  |e VerfasserIn  |4 aut 
700 1 |a Bilguvar, Kaya  |e VerfasserIn  |4 aut 
700 1 |a Munchau, Alexander  |e VerfasserIn  |4 aut 
700 1 |a Ahmed, Zubair M.  |e VerfasserIn  |4 aut 
700 1 |a Hufnagel, Robert B.  |e VerfasserIn  |4 aut 
700 1 |a Fahey, Michael C.  |e VerfasserIn  |4 aut 
700 1 |a Maroofian, Reza  |e VerfasserIn  |4 aut 
700 1 |a Houlden, Henry  |e VerfasserIn  |4 aut 
700 1 |a Sticht, Heinrich  |e VerfasserIn  |4 aut 
700 1 |a Mane, Shrikant M.  |e VerfasserIn  |4 aut 
700 1 |a Rad, Aboulfazl  |e VerfasserIn  |4 aut 
700 1 |a Vona, Barbara  |e VerfasserIn  |4 aut 
700 1 |a Jin, Sheng Chih  |e VerfasserIn  |4 aut 
700 1 |a Haack, Tobias B.  |e VerfasserIn  |4 aut 
700 1 |a Makowski, Christine  |e VerfasserIn  |4 aut 
700 1 |a Hirsch, Yoel  |e VerfasserIn  |4 aut 
700 1 |a Riazuddin, Saima  |e VerfasserIn  |4 aut 
700 1 |a Kruer, Michael C.  |e VerfasserIn  |4 aut 
773 0 8 |i Enthalten in  |t The American journal of human genetics  |d New York, NY [u.a.] : Cell Press, 1949  |g 108(2021), 10, Seite 2006-2016  |w (DE-627)269019014  |w (DE-600)1473813-2  |w (DE-576)077662636  |x 1537-6605  |7 nnas  |a Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 
773 1 8 |g volume:108  |g year:2021  |g number:10  |g pages:2006-2016  |g extent:11  |a Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 
856 4 0 |u https://doi.org/10.1016/j.ajhg.2021.08.003  |x Verlag  |x Resolving-System  |z lizenzpflichtig  |3 Volltext 
856 4 0 |u https://www.sciencedirect.com/science/article/pii/S0002929721003025  |x Verlag  |z lizenzpflichtig  |3 Volltext 
951 |a AR 
992 |a 20220117 
993 |a Article 
994 |a 2021 
998 |g 1070020834  |a Kotzaeridou, Urania  |m 1070020834:Kotzaeridou, Urania  |d 910000  |d 910500  |e 910000PK1070020834  |e 910500PK1070020834  |k 0/910000/  |k 1/910000/910500/  |p 29 
998 |g 134123530  |a Ziegler, Andreas  |m 134123530:Ziegler, Andreas  |d 910000  |d 910500  |e 910000PZ134123530  |e 910500PZ134123530  |k 0/910000/  |k 1/910000/910500/  |p 28 
998 |g 1047559943  |a Lenz, Dominic  |m 1047559943:Lenz, Dominic  |d 910000  |d 910500  |e 910000PL1047559943  |e 910500PL1047559943  |k 0/910000/  |k 1/910000/910500/  |p 27 
999 |a KXP-PPN178624635X  |e 4036571524 
BIB |a Y 
SER |a journal 
JSO |a {"id":{"doi":["10.1016/j.ajhg.2021.08.003"],"eki":["178624635X"]},"note":["Gesehen am 17.01.2022"],"name":{"displayForm":["Elodie M. Richard, Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty, Alex Pagnozzi, Sandra M. Nordlie, Brandon S. Guida, Patricia Cornejo, Helen Magee, James Liu, Bethany Y. Norton, Richard I. Webster, Lisa Worgan, Hakon Hakonarson, Jiankang Li, Yiran Guo, Mahim Jain, Alyssa Blesson, Lance H. Rodan, Mary-Alice Abbott, Anne Comi, Julie S. Cohen, Bader Alhaddad, Thomas Meitinger, Dominic Lenz, Andreas Ziegler, Urania Kotzaeridou, Theresa Brunet, Anna Chassevent, Constance Smith-Hicks, Joseph Ekstein, Tzvi Weiden, Andreas Hahn, Nazira Zharkinbekova, Peter Turnpenny, Arianna Tucci, Melissa Yelton, Rita Horvath, Serdal Gungor, Semra Hiz, Yavuz Oktay, Hanns Lochmuller, Marcella Zollino, Manuela Morleo, Giuseppe Marangi, Vincenzo Nigro, Annalaura Torella, Michele Pinelli, Simona Amenta, Ralf A. Husain, Benita Grossmann, Marion Rapp, Claudia Steen, Iris Marquardt, Mona Grimmel, Ute Grasshoff, G. Christoph Korenke, Marta Owczarek-Lipska, John Neidhardt, Francesca Clementina Radio, Cecilia Mancini, Dianela Judith Claps Sepulveda, Kirsty McWalter, Amber Begtrup, Amy Crunk, Maria J. Guillen Sacoto, Richard Person, Rhonda E. Schnur, Maria Margherita Mancardi, Florian Kreuder, Pasquale Striano, Federico Zara, Wendy K. Chung, Warren A. Marks, Clare L. van Eyk, Dani L. Webber, Mark A. Corbett, Kelly Harper, Jesia G. Berry, Alastair H. MacLennan, Jozef Gecz, Marco Tartaglia, Vincenzo Salpietro, John Christodoulou, Jan Kaslin, Sergio Padilla-Lopez, Kaya Bilguvar, Alexander Munchau, Zubair M. Ahmed, Robert B. Hufnagel, Michael C. Fahey, Reza Maroofian, Henry Houlden, Heinrich Sticht, Shrikant M. Mane, Aboulfazl Rad, Barbara Vona, Sheng Chih Jin, Tobias B. Haack, Christine Makowski, Yoel Hirsch, Saima Riazuddin, Michael C. Kruer"]},"language":["eng"],"recId":"178624635X","relHost":[{"disp":"Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing lossThe American journal of human genetics","type":{"media":"Online-Ressource","bibl":"periodical"},"recId":"269019014","id":{"issn":["1537-6605"],"eki":["269019014"],"zdb":["1473813-2"]},"note":["Gesehen am 28.05.2020"],"title":[{"title":"The American journal of human genetics","title_sort":"American journal of human genetics"}],"pubHistory":["1.1949 -"],"corporate":[{"roleDisplay":"Herausgebendes Organ","role":"isb","display":"American Society of Human Genetics"}],"origin":[{"publisher":"Cell Press ; Elsevier ; Univ. of Chicago Press","dateIssuedDisp":"1949-","dateIssuedKey":"1949","publisherPlace":"New York, NY [u.a.] ; New York, NY ; Chicago, Ill."}],"name":{"displayForm":["American Society of Human Genetics"]},"language":["eng"],"part":{"issue":"10","text":"108(2021), 10, Seite 2006-2016","pages":"2006-2016","year":"2021","volume":"108","extent":"11"}}],"type":{"media":"Online-Ressource","bibl":"article-journal"},"origin":[{"dateIssuedDisp":"7 October 2021","dateIssuedKey":"2021"}],"title":[{"title_sort":"Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss","title":"Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss"}],"person":[{"roleDisplay":"VerfasserIn","given":"Elodie M.","role":"aut","display":"Richard, Elodie M.","family":"Richard"},{"role":"aut","roleDisplay":"VerfasserIn","given":"Somayeh","family":"Bakhtiari","display":"Bakhtiari, Somayeh"},{"display":"Marsh, Ashley P. L.","family":"Marsh","given":"Ashley P. L.","roleDisplay":"VerfasserIn","role":"aut"},{"role":"aut","roleDisplay":"VerfasserIn","given":"Rauan","display":"Kaiyrzhanov, Rauan","family":"Kaiyrzhanov"},{"role":"aut","given":"Matias","roleDisplay":"VerfasserIn","display":"Wagner, Matias","family":"Wagner"},{"family":"Shetty","display":"Shetty, Sheetal","role":"aut","roleDisplay":"VerfasserIn","given":"Sheetal"},{"given":"Alex","roleDisplay":"VerfasserIn","role":"aut","display":"Pagnozzi, Alex","family":"Pagnozzi"},{"display":"Nordlie, Sandra M.","family":"Nordlie","role":"aut","given":"Sandra M.","roleDisplay":"VerfasserIn"},{"role":"aut","given":"Brandon S.","roleDisplay":"VerfasserIn","family":"Guida","display":"Guida, Brandon S."},{"display":"Cornejo, Patricia","family":"Cornejo","role":"aut","roleDisplay":"VerfasserIn","given":"Patricia"},{"display":"Magee, Helen","family":"Magee","roleDisplay":"VerfasserIn","given":"Helen","role":"aut"},{"display":"Liu, James","family":"Liu","role":"aut","roleDisplay":"VerfasserIn","given":"James"},{"given":"Bethany Y.","roleDisplay":"VerfasserIn","role":"aut","display":"Norton, Bethany Y.","family":"Norton"},{"role":"aut","given":"Richard I.","roleDisplay":"VerfasserIn","family":"Webster","display":"Webster, Richard I."},{"role":"aut","roleDisplay":"VerfasserIn","given":"Lisa","family":"Worgan","display":"Worgan, Lisa"},{"role":"aut","given":"Hakon","roleDisplay":"VerfasserIn","display":"Hakonarson, Hakon","family":"Hakonarson"},{"family":"Li","display":"Li, Jiankang","roleDisplay":"VerfasserIn","given":"Jiankang","role":"aut"},{"family":"Guo","display":"Guo, Yiran","role":"aut","roleDisplay":"VerfasserIn","given":"Yiran"},{"role":"aut","given":"Mahim","roleDisplay":"VerfasserIn","display":"Jain, Mahim","family":"Jain"},{"family":"Blesson","display":"Blesson, Alyssa","role":"aut","given":"Alyssa","roleDisplay":"VerfasserIn"},{"role":"aut","roleDisplay":"VerfasserIn","given":"Lance H.","display":"Rodan, Lance H.","family":"Rodan"},{"display":"Abbott, Mary-Alice","family":"Abbott","given":"Mary-Alice","roleDisplay":"VerfasserIn","role":"aut"},{"display":"Comi, Anne","family":"Comi","given":"Anne","roleDisplay":"VerfasserIn","role":"aut"},{"given":"Julie S.","roleDisplay":"VerfasserIn","role":"aut","family":"Cohen","display":"Cohen, Julie S."},{"display":"Alhaddad, Bader","family":"Alhaddad","role":"aut","given":"Bader","roleDisplay":"VerfasserIn"},{"display":"Meitinger, Thomas","family":"Meitinger","roleDisplay":"VerfasserIn","given":"Thomas","role":"aut"},{"given":"Dominic","roleDisplay":"VerfasserIn","role":"aut","family":"Lenz","display":"Lenz, Dominic"},{"role":"aut","given":"Andreas","roleDisplay":"VerfasserIn","display":"Ziegler, Andreas","family":"Ziegler"},{"display":"Kotzaeridou, Urania","family":"Kotzaeridou","role":"aut","roleDisplay":"VerfasserIn","given":"Urania"},{"role":"aut","roleDisplay":"VerfasserIn","given":"Theresa","display":"Brunet, Theresa","family":"Brunet"},{"family":"Chassevent","display":"Chassevent, Anna","role":"aut","given":"Anna","roleDisplay":"VerfasserIn"},{"roleDisplay":"VerfasserIn","given":"Constance","role":"aut","family":"Smith-Hicks","display":"Smith-Hicks, Constance"},{"role":"aut","given":"Joseph","roleDisplay":"VerfasserIn","display":"Ekstein, Joseph","family":"Ekstein"},{"role":"aut","roleDisplay":"VerfasserIn","given":"Tzvi","display":"Weiden, Tzvi","family":"Weiden"},{"family":"Hahn","display":"Hahn, Andreas","given":"Andreas","roleDisplay":"VerfasserIn","role":"aut"},{"display":"Zharkinbekova, Nazira","family":"Zharkinbekova","given":"Nazira","roleDisplay":"VerfasserIn","role":"aut"},{"given":"Peter","roleDisplay":"VerfasserIn","role":"aut","display":"Turnpenny, Peter","family":"Turnpenny"},{"given":"Arianna","roleDisplay":"VerfasserIn","role":"aut","family":"Tucci","display":"Tucci, Arianna"},{"family":"Yelton","display":"Yelton, Melissa","role":"aut","roleDisplay":"VerfasserIn","given":"Melissa"},{"family":"Horvath","display":"Horvath, Rita","given":"Rita","roleDisplay":"VerfasserIn","role":"aut"},{"role":"aut","roleDisplay":"VerfasserIn","given":"Serdal","display":"Gungor, Serdal","family":"Gungor"},{"given":"Semra","roleDisplay":"VerfasserIn","role":"aut","display":"Hiz, Semra","family":"Hiz"},{"role":"aut","given":"Yavuz","roleDisplay":"VerfasserIn","display":"Oktay, Yavuz","family":"Oktay"},{"role":"aut","given":"Hanns","roleDisplay":"VerfasserIn","display":"Lochmuller, Hanns","family":"Lochmuller"},{"display":"Zollino, Marcella","family":"Zollino","given":"Marcella","roleDisplay":"VerfasserIn","role":"aut"},{"family":"Morleo","display":"Morleo, Manuela","role":"aut","given":"Manuela","roleDisplay":"VerfasserIn"},{"display":"Marangi, Giuseppe","family":"Marangi","role":"aut","given":"Giuseppe","roleDisplay":"VerfasserIn"},{"display":"Nigro, Vincenzo","family":"Nigro","roleDisplay":"VerfasserIn","given":"Vincenzo","role":"aut"},{"role":"aut","roleDisplay":"VerfasserIn","given":"Annalaura","family":"Torella","display":"Torella, Annalaura"},{"role":"aut","roleDisplay":"VerfasserIn","given":"Michele","family":"Pinelli","display":"Pinelli, Michele"},{"given":"Simona","roleDisplay":"VerfasserIn","role":"aut","display":"Amenta, Simona","family":"Amenta"},{"family":"Husain","display":"Husain, Ralf A.","role":"aut","roleDisplay":"VerfasserIn","given":"Ralf A."},{"roleDisplay":"VerfasserI 
JSO |a n","given":"Benita","role":"aut","family":"Grossmann","display":"Grossmann, Benita"},{"family":"Rapp","display":"Rapp, Marion","roleDisplay":"VerfasserIn","given":"Marion","role":"aut"},{"family":"Steen","display":"Steen, Claudia","given":"Claudia","roleDisplay":"VerfasserIn","role":"aut"},{"family":"Marquardt","display":"Marquardt, Iris","roleDisplay":"VerfasserIn","given":"Iris","role":"aut"},{"given":"Mona","roleDisplay":"VerfasserIn","role":"aut","display":"Grimmel, Mona","family":"Grimmel"},{"display":"Grasshoff, Ute","family":"Grasshoff","role":"aut","roleDisplay":"VerfasserIn","given":"Ute"},{"roleDisplay":"VerfasserIn","given":"Christoph","role":"aut","family":"Korenke","display":"Korenke, Christoph"},{"role":"aut","given":"Marta","roleDisplay":"VerfasserIn","display":"Owczarek-Lipska, Marta","family":"Owczarek-Lipska"},{"display":"Neidhardt, John","family":"Neidhardt","role":"aut","roleDisplay":"VerfasserIn","given":"John"},{"display":"Radio, Francesca Clementina","family":"Radio","role":"aut","roleDisplay":"VerfasserIn","given":"Francesca Clementina"},{"roleDisplay":"VerfasserIn","given":"Cecilia","role":"aut","display":"Mancini, Cecilia","family":"Mancini"},{"display":"Claps Sepulveda, Dianela Judith","family":"Claps Sepulveda","role":"aut","given":"Dianela Judith","roleDisplay":"VerfasserIn"},{"role":"aut","roleDisplay":"VerfasserIn","given":"Kirsty","family":"McWalter","display":"McWalter, Kirsty"},{"display":"Begtrup, Amber","family":"Begtrup","roleDisplay":"VerfasserIn","given":"Amber","role":"aut"},{"given":"Amy","roleDisplay":"VerfasserIn","role":"aut","family":"Crunk","display":"Crunk, Amy"},{"display":"Guillen Sacoto, Maria J.","family":"Guillen Sacoto","role":"aut","given":"Maria J.","roleDisplay":"VerfasserIn"},{"family":"Person","display":"Person, Richard","roleDisplay":"VerfasserIn","given":"Richard","role":"aut"},{"roleDisplay":"VerfasserIn","given":"Rhonda E.","role":"aut","display":"Schnur, Rhonda E.","family":"Schnur"},{"display":"Mancardi, Maria Margherita","family":"Mancardi","roleDisplay":"VerfasserIn","given":"Maria Margherita","role":"aut"},{"display":"Kreuder, Florian","family":"Kreuder","given":"Florian","roleDisplay":"VerfasserIn","role":"aut"},{"family":"Striano","display":"Striano, Pasquale","given":"Pasquale","roleDisplay":"VerfasserIn","role":"aut"},{"given":"Federico","roleDisplay":"VerfasserIn","role":"aut","display":"Zara, Federico","family":"Zara"},{"family":"Chung","display":"Chung, Wendy K.","roleDisplay":"VerfasserIn","given":"Wendy K.","role":"aut"},{"family":"Marks","display":"Marks, Warren A.","given":"Warren A.","roleDisplay":"VerfasserIn","role":"aut"},{"role":"aut","roleDisplay":"VerfasserIn","given":"Clare L.","display":"van Eyk, Clare L.","family":"van Eyk"},{"family":"Webber","display":"Webber, Dani L.","role":"aut","given":"Dani L.","roleDisplay":"VerfasserIn"},{"display":"Corbett, Mark A.","family":"Corbett","given":"Mark A.","roleDisplay":"VerfasserIn","role":"aut"},{"display":"Harper, Kelly","family":"Harper","role":"aut","roleDisplay":"VerfasserIn","given":"Kelly"},{"role":"aut","roleDisplay":"VerfasserIn","given":"Jesia G.","family":"Berry","display":"Berry, Jesia G."},{"family":"MacLennan","display":"MacLennan, Alastair H.","role":"aut","roleDisplay":"VerfasserIn","given":"Alastair H."},{"family":"Gecz","display":"Gecz, Jozef","role":"aut","given":"Jozef","roleDisplay":"VerfasserIn"},{"display":"Tartaglia, Marco","family":"Tartaglia","roleDisplay":"VerfasserIn","given":"Marco","role":"aut"},{"display":"Salpietro, Vincenzo","family":"Salpietro","role":"aut","given":"Vincenzo","roleDisplay":"VerfasserIn"},{"family":"Christodoulou","display":"Christodoulou, John","given":"John","roleDisplay":"VerfasserIn","role":"aut"},{"roleDisplay":"VerfasserIn","given":"Jan","role":"aut","family":"Kaslin","display":"Kaslin, Jan"},{"role":"aut","roleDisplay":"VerfasserIn","given":"Sergio","family":"Padilla-Lopez","display":"Padilla-Lopez, Sergio"},{"role":"aut","given":"Kaya","roleDisplay":"VerfasserIn","family":"Bilguvar","display":"Bilguvar, Kaya"},{"display":"Munchau, Alexander","family":"Munchau","given":"Alexander","roleDisplay":"VerfasserIn","role":"aut"},{"role":"aut","roleDisplay":"VerfasserIn","given":"Zubair M.","family":"Ahmed","display":"Ahmed, Zubair M."},{"roleDisplay":"VerfasserIn","given":"Robert B.","role":"aut","family":"Hufnagel","display":"Hufnagel, Robert B."},{"family":"Fahey","display":"Fahey, Michael C.","role":"aut","roleDisplay":"VerfasserIn","given":"Michael C."},{"roleDisplay":"VerfasserIn","given":"Reza","role":"aut","family":"Maroofian","display":"Maroofian, Reza"},{"display":"Houlden, Henry","family":"Houlden","role":"aut","given":"Henry","roleDisplay":"VerfasserIn"},{"family":"Sticht","display":"Sticht, Heinrich","given":"Heinrich","roleDisplay":"VerfasserIn","role":"aut"},{"role":"aut","given":"Shrikant M.","roleDisplay":"VerfasserIn","display":"Mane, Shrikant M.","family":"Mane"},{"display":"Rad, Aboulfazl","family":"Rad","roleDisplay":"VerfasserIn","given":"Aboulfazl","role":"aut"},{"display":"Vona, Barbara","family":"Vona","role":"aut","given":"Barbara","roleDisplay":"VerfasserIn"},{"display":"Jin, Sheng Chih","family":"Jin","roleDisplay":"VerfasserIn","given":"Sheng Chih","role":"aut"},{"given":"Tobias B.","roleDisplay":"VerfasserIn","role":"aut","family":"Haack","display":"Haack, Tobias B."},{"display":"Makowski, Christine","family":"Makowski","given":"Christine","roleDisplay":"VerfasserIn","role":"aut"},{"roleDisplay":"VerfasserIn","given":"Yoel","role":"aut","family":"Hirsch","display":"Hirsch, Yoel"},{"display":"Riazuddin, Saima","family":"Riazuddin","roleDisplay":"VerfasserIn","given":"Saima","role":"aut"},{"display":"Kruer, Michael C.","family":"Kruer","roleDisplay":"VerfasserIn","given":"Michael C.","role":"aut"}],"physDesc":[{"extent":"11 S."}]} 
SRT |a RICHARDELOBIALLELICV7202 

Ähnliche Einträge