Neuer Locus und Kandidatengen für familiäre Legasthenie auf Chromosom 4q = A novel locus and candidate gene for familial developmental dyslexia on chromosome 4q
. Objective: Developmental dyslexia is a highly heritable specific reading and writing disability. To identify a possible new locus and candidate gene for this disability, we investigated a four-generation pedigree where transmission of dyslexia is consistent with an autosomal dominant inheritance p...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article (Journal) |
| Language: | German English |
| Published: |
November 11, 2020
|
| In: |
Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie
Year: 2020, Volume: 48, Issue: 6, Pages: 478-489 |
| ISSN: | 1664-2880 |
| DOI: | 10.1024/1422-4917/a000758 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1024/1422-4917/a000758 Verlag, lizenzpflichtig, Volltext: https://econtent.hogrefe.com/doi/10.1024/1422-4917/a000758 
|
| Author Notes: | Tiemo Grimm, Masoud Garshasbi, Lucia Puettmann, Wei Chen, Reinhard Ullmann, Bertram Müller-Myhsok, Eva Klopocki, Lina Herbst, Janina Haug, Lars R. Jensen, Christine Fischer, Markus Nöthen, Kerstin Ludwig, Andreas Warnke, Jürg Ott, Gerd Schulte-Körne, Hans-Hilger Ropers, und Andreas W. Kuss |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1745046666 | ||
| 003 | DE-627 | ||
| 005 | 20220819081633.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 210120s2020 xx |||||o 00| ||ger c | ||
| 024 | 7 | |a 10.1024/1422-4917/a000758 |2 doi | |
| 035 | |a (DE-627)1745046666 | ||
| 035 | |a (DE-599)KXP1745046666 | ||
| 035 | |a (OCoLC)1341388888 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a ger |h eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Grimm, Tiemo |d 1944- |e VerfasserIn |0 (DE-588)1028941048 |0 (DE-627)73184887X |0 (DE-576)376372400 |4 aut | |
| 245 | 1 | 0 | |a Neuer Locus und Kandidatengen für familiäre Legasthenie auf Chromosom 4q |b = A novel locus and candidate gene for familial developmental dyslexia on chromosome 4q |c Tiemo Grimm, Masoud Garshasbi, Lucia Puettmann, Wei Chen, Reinhard Ullmann, Bertram Müller-Myhsok, Eva Klopocki, Lina Herbst, Janina Haug, Lars R. Jensen, Christine Fischer, Markus Nöthen, Kerstin Ludwig, Andreas Warnke, Jürg Ott, Gerd Schulte-Körne, Hans-Hilger Ropers, und Andreas W. Kuss |
| 246 | 3 | 1 | |a A novel locus and candidate gene for familial developmental dyslexia on chromosome 4q |
| 264 | 1 | |c November 11, 2020 | |
| 300 | |a 12 | ||
| 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 20.01.2021 | ||
| 520 | |a . Objective: Developmental dyslexia is a highly heritable specific reading and writing disability. To identify a possible new locus and candidate gene for this disability, we investigated a four-generation pedigree where transmission of dyslexia is consistent with an autosomal dominant inheritance pattern. Methods: We performed genome wide array-based SNP genotyping and parametric linkage analysis and sequencing analysis of protein-coding exons, exon-intron boundaries and conserved extragenic regions within the haplotype cosegregating with dyslexia in DNA from one affected and one unaffected family member. Cosegregation was confirmed by sequencing all available family members. Additionally, we analyzed 96 dyslexic individuals who had previously shown positive LOD scores on chromosome 4q28 as well as an even larger sample (n = 2591). Results: We found a single prominent linkage interval on chromosome 4q, where sequence analysis revealed a nucleotide variant in the 3’ UTR of brain expressed SPRY1 in the dyslexic family member that cosegregated with dyslexia. This sequence alteration might affect the binding efficiency of the IGF2BP1 RNA-binding protein and thus influence the expression level of the SPRY1 gene product. An analysis of 96 individuals from a cohort of dyslexic individuals revealed a second heterozygous variant in this gene, which was absent in the unaffected sister of the proband. An investigation of the region in a much larger sample further found a nominal p-value of 0.0016 for verbal short-term memory (digit span) in 2,591 individuals for a neighboring SNV. After correcting for the local number of analyzed SNVs, and after taking into account linkage disequilibrium, we found this corresponds to a p-value of 0.0678 for this phenotype. Conclusions: We describe a new locus for familial dyslexia and discuss the possibility that SPRY1 might play a role in the etiology of a monogenic form of dyslexia. | ||
| 700 | 1 | |a Nöthen, Markus Maria |e VerfasserIn |0 (DE-588)1069221139 |0 (DE-627)821594591 |0 (DE-576)428541534 |4 aut | |
| 700 | 1 | |a Fischer, Christine |d 1955- |e VerfasserIn |0 (DE-588)128461993 |0 (DE-627)373010362 |0 (DE-576)297159674 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie |d Bern : Huber, 1999 |g 48(2020), 6, Seite 478-489 |h Online-Ressource |w (DE-627)350781001 |w (DE-600)2083294-1 |w (DE-576)108856003 |x 1664-2880 |7 nnas |a Neuer Locus und Kandidatengen für familiäre Legasthenie auf Chromosom 4q = A novel locus and candidate gene for familial developmental dyslexia on chromosome 4q |
| 773 | 1 | 8 | |g volume:48 |g year:2020 |g number:6 |g pages:478-489 |g extent:12 |a Neuer Locus und Kandidatengen für familiäre Legasthenie auf Chromosom 4q = A novel locus and candidate gene for familial developmental dyslexia on chromosome 4q |
| 856 | 4 | 0 | |u https://doi.org/10.1024/1422-4917/a000758 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://econtent.hogrefe.com/doi/10.1024/1422-4917/a000758 |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20210120 | ||
| 993 | |a Article | ||
| 994 | |a 2020 | ||
| 998 | |g 128461993 |a Fischer, Christine |m 128461993:Fischer, Christine |d 910000 |d 911500 |e 910000PF128461993 |e 911500PF128461993 |k 0/910000/ |k 1/910000/911500/ |p 11 | ||
| 999 | |a KXP-PPN1745046666 |e 3839782325 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"relHost":[{"origin":[{"publisherPlace":"Bern","dateIssuedDisp":"[1999?]-","publisher":"Huber"}],"id":{"issn":["1664-2880"],"zdb":["2083294-1"],"eki":["350781001"]},"type":{"media":"Online-Ressource","bibl":"periodical"},"language":["eng","ger"],"title":[{"title_sort":"Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie","title":"Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie"}],"physDesc":[{"extent":"Online-Ressource"}],"part":{"volume":"48","pages":"478-489","text":"48(2020), 6, Seite 478-489","year":"2020","extent":"12","issue":"6"},"disp":"Neuer Locus und Kandidatengen für familiäre Legasthenie auf Chromosom 4q = A novel locus and candidate gene for familial developmental dyslexia on chromosome 4qZeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie","pubHistory":["Nachgewiesen 27.1999 -"],"recId":"350781001","note":["Gesehen am 28.10.16"]}],"type":{"media":"Online-Ressource","bibl":"article-journal"},"language":["ger"],"id":{"doi":["10.1024/1422-4917/a000758"],"eki":["1745046666"]},"recId":"1745046666","note":["Gesehen am 20.01.2021"],"name":{"displayForm":["Tiemo Grimm, Masoud Garshasbi, Lucia Puettmann, Wei Chen, Reinhard Ullmann, Bertram Müller-Myhsok, Eva Klopocki, Lina Herbst, Janina Haug, Lars R. Jensen, Christine Fischer, Markus Nöthen, Kerstin Ludwig, Andreas Warnke, Jürg Ott, Gerd Schulte-Körne, Hans-Hilger Ropers, und Andreas W. Kuss"]},"person":[{"role":"aut","given":"Tiemo","display":"Grimm, Tiemo","family":"Grimm"},{"role":"aut","given":"Markus Maria","family":"Nöthen","display":"Nöthen, Markus Maria"},{"given":"Christine","family":"Fischer","display":"Fischer, Christine","role":"aut"}],"titleTranslated":[{"translated":"A novel locus and candidate gene for familial developmental dyslexia on chromosome 4q"}],"title":[{"subtitle":" = A novel locus and candidate gene for familial developmental dyslexia on chromosome 4q","title":"Neuer Locus und Kandidatengen für familiäre Legasthenie auf Chromosom 4q","title_sort":"Neuer Locus und Kandidatengen für familiäre Legasthenie auf Chromosom 4q"}],"physDesc":[{"extent":"12 S."}],"origin":[{"dateIssuedDisp":"November 11, 2020","dateIssuedKey":"2020"}]} | ||
| SRT | |a GRIMMTIEMONEUERLOCUS1120 | ||