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Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive genetic disorder affecting the biosynthesis of dopamine, a precursor of both norepinephrine and epinephrine, and serotonin. Diagnosis is based on the analysis of CSF or plasma metabolites, AADC activity in plasma and...

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Main Authors: Himmelreich, Nastassja (Author) , Bertoldi, Mariarita (Author) , Alfadhel, Majid (Author) , Alghamdi, Malak Ali (Author) , Anikster, Yair (Author) , Bao, Xinhua (Author) , Bashiri, Fahad A. (Author) , Zeev, Bruria Ben (Author) , Bisello, Giovanni (Author) , Ceylan, Ahmet Cevdet (Author) , Chien, Yin-Hsiu (Author) , Choy, Yew Sing (Author) , Elsea, Sarah H. (Author) , Flint, Lisa (Author) , García-Cazorla, Àngels (Author) , Gijavanekar, Charul (Author) , Gümüş, Emel Yılmaz (Author) , Hamad, Muddathir H. (Author) , Hişmi, Burcu (Author) , Honzik, Tomas (Author) , Kuseyri Hübschmann, Oya (Author) , Hwu, Wuh-Liang (Author) , Ibáñez-Micó, Salvador (Author) , Jeltsch, Kathrin (Author) , Juliá-Palacios, Natalia (Author) , Kasapkara, Çiğdem Seher (Author) , Kurian, Manju A. (Author) , Kusmierska, Katarzyna (Author) , Liu, Ning (Author) , Ngu, Lock Hock (Author) , Odom, John D. (Author) , Ong, Winnie Peitee (Author) , Opladen, Thomas (Author) , Oppeboen, Mari (Author) , Pearl, Phillip L. (Author) , Pérez, Belén (Author) , Pons, Roser (Author) , Rygiel, Agnieszka Magdalena (Author) , Shien, Tan Ee (Author) , Spaull, Robert (Author) , Sykut-Cegielska, Jolanta (Author) , Tabarki, Brahim (Author) , Tangeraas, Trine (Author) , Thöny, Beat (Author) , Wassenberg, Tessa (Author) , Wen, Yongxin (Author) , Yakob, Yusnita (Author) , Yin, Jasmine Goh Chew (Author) , Zeman, Jiri (Author) , Blau, Nenad (Author)
Format: Article (Journal)
Language:English
Published: July 2023
In: Molecular genetics and metabolism
Year: 2023, Volume: 139, Issue: 3, Pages: 1-15
ISSN:1096-7206
DOI:10.1016/j.ymgme.2023.107624
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.ymgme.2023.107624
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1096719223002548
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Author Notes:Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Ali Alghamdi, Yair Anikster, Xinhua Bao, Fahad A. Bashiri, Bruria Ben Zeev, Giovanni Bisello, Ahmet Cevdet Ceylan, Yin-Hsiu Chien, Yew Sing Choy, Sarah H. Elsea, Lisa Flint, Àngels García-Cazorla, Charul Gijavanekar, Emel Yılmaz Gümüş, Muddathir H. Hamad, Burcu Hişmi, Tomas Honzik, Oya Kuseyri Hübschmann, Wuh-Liang Hwu, Salvador Ibáñez-Micó, Kathrin Jeltsch, Natalia Juliá-Palacios, Çiğdem Seher Kasapkara, Manju A. Kurian, Katarzyna Kusmierska, Ning Liu, Lock Hock Ngu, John D. Odom, Winnie Peitee Ong, Thomas Opladen, Mari Oppeboen, Phillip L. Pearl, Belén Pérez, Roser Pons, Agnieszka Magdalena Rygiel, Tan Ee Shien, Robert Spaull, Jolanta Sykut-Cegielska, Brahim Tabarki, Trine Tangeraas, Beat Thöny, Tessa Wassenberg, Yongxin Wen, Yusnita Yakob, Jasmine Goh Chew Yin, Jiri Zeman, Nenad Blau

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245 1 0 |a Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes  |c Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Ali Alghamdi, Yair Anikster, Xinhua Bao, Fahad A. Bashiri, Bruria Ben Zeev, Giovanni Bisello, Ahmet Cevdet Ceylan, Yin-Hsiu Chien, Yew Sing Choy, Sarah H. Elsea, Lisa Flint, Àngels García-Cazorla, Charul Gijavanekar, Emel Yılmaz Gümüş, Muddathir H. Hamad, Burcu Hişmi, Tomas Honzik, Oya Kuseyri Hübschmann, Wuh-Liang Hwu, Salvador Ibáñez-Micó, Kathrin Jeltsch, Natalia Juliá-Palacios, Çiğdem Seher Kasapkara, Manju A. Kurian, Katarzyna Kusmierska, Ning Liu, Lock Hock Ngu, John D. Odom, Winnie Peitee Ong, Thomas Opladen, Mari Oppeboen, Phillip L. Pearl, Belén Pérez, Roser Pons, Agnieszka Magdalena Rygiel, Tan Ee Shien, Robert Spaull, Jolanta Sykut-Cegielska, Brahim Tabarki, Trine Tangeraas, Beat Thöny, Tessa Wassenberg, Yongxin Wen, Yusnita Yakob, Jasmine Goh Chew Yin, Jiri Zeman, Nenad Blau 
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520 |a Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive genetic disorder affecting the biosynthesis of dopamine, a precursor of both norepinephrine and epinephrine, and serotonin. Diagnosis is based on the analysis of CSF or plasma metabolites, AADC activity in plasma and genetic testing for variants in the DDC gene. The exact prevalence of AADC deficiency, the number of patients, and the variant and genotype prevalence are not known. Here, we present the DDC variant (n = 143) and genotype (n = 151) prevalence of 348 patients with AADC deficiency, 121 of whom were previously not reported. In addition, we report 26 new DDC variants, classify them according to the ACMG/AMP/ACGS recommendations for pathogenicity and score them based on the predicted structural effect. The splice variant c.714+4A>T, with a founder effect in Taiwan and China, was the most common variant (allele frequency = 32.4%), and c.[714+4A>T];[714+4A>T] was the most common genotype (genotype frequency = 21.3%). Approximately 90% of genotypes had variants classified as pathogenic or likely pathogenic, while 7% had one VUS allele and 3% had two VUS alleles. Only one benign variant was reported. Homozygous and compound heterozygous genotypes were interpreted in terms of AADC protein and categorized as: i) devoid of full-length AADC, ii) bearing one type of AADC homodimeric variant or iii) producing an AADC protein population composed of two homodimeric and one heterodimeric variant. Based on structural features, a score was attributed for all homodimers, and a tentative prediction was advanced for the heterodimer. Almost all AADC protein variants were pathogenic or likely pathogenic. 
650 4 |a ACMG 
650 4 |a Dopamine 
650 4 |a Neurotransmitter disorder 
650 4 |a Serotonin 
650 4 |a Variant effect prediction 
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