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  A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family

Puettmann, L., Stehr, H., Garshasbi, M., Hu, H., Kahrizi, K., Lipkowitz, B., et al. (2013). A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. American Journal of Medical Genetics Part A, 161A(8), 1915-1922. doi:10.1002/ajmg.a.36030.

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© 2013 Wiley Periodicals, Inc.
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 Urheber:
Puettmann, L.1, Autor           
Stehr, H.2, Autor           
Garshasbi, M.3, Autor           
Hu, H.3, Autor           
Kahrizi, K., Autor
Lipkowitz, B.1, Autor           
Jamali, P., Autor
Tzschach, A.3, Autor
Najmabadi, H., Autor
Ropers, H. H.3, Autor           
Musante, L.1, Autor           
Kuss, A. W.1, Autor           
Affiliations:
1Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, Ihnestr. 73, 14195 Berlin, Germany, ou_1479644              
2Independent Junior Research Groups (OWL), Max Planck Institute for Molecular Genetics, Max Planck Society, Ihnestr, 73, 14195 Berlin, Germany, ou_1433554              
3Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, Ihnestr, 73, 14195 Berlin, Germany, ou_1433549              

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Schlagwörter: SSADH deficiency; ALDH5A1; intellectual disability; Iranian; autosomal recessive Succinate-Semialdehyde Dehydrogenase/blood/deficiency/genetics Young Adult
 Zusammenfassung: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a disorder of the catabolism of the neurotransmitter gamma-aminobutyric acid (GABA) with a very variable clinical phenotype ranging from mild intellectual disability to severe neurological defects. We report here on a large Iranian family with four affected patients presenting with severe intellectual disability, developmental delay and generalized tonic-clonic seizures. Molecular genetic analysis revealed a missense mutation c.901A>G (p.K301E, RefSeq number NM_001080) in ALDH5A1 co-segregating with the disease in the family. The missense mutation affects an amino acid residue that is highly conserved across the animal kingdom. Protein modeling showed that p.K301E most likely leads to a loss of NAD(+) binding and a predicted decrease in the free energy by 6.67 kcal/mol furthermore suggests a severe destabilization of the protein. In line with these in silico observations, no SSADH enzyme activity could be detected in patient lymphoblasts.

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Sprache(n): eng - English
 Datum: 2013-07-042013-08
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: Expertenbegutachtung
 Identifikatoren: DOI: 10.1002/ajmg.a.36030
ISSN: 1552-4833 (Electronic)1552-4825 (Print)
URI: http://www.ncbi.nlm.nih.gov/pubmed/23825041
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Titel: American Journal of Medical Genetics Part A
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: Hoboken, N.J. : Wiley-Liss
Seiten: - Band / Heft: 161A (8) Artikelnummer: - Start- / Endseite: 1915 - 1922 Identifikator: ISSN: 1552-4825
CoNE: https://pure.mpg.de/cone/journals/resource/954925476465