Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.

Détails

ID Serval
serval:BIB_D7199AA0FEBB
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.
Périodique
Human Mutation
Auteur(s)
Abouzeid H., Favez T., Schmid A., Agosti C., Youssef M., Marzouk I., El Shakankiry N., Bayoumi N., Munier F.L., Schorderet D.F.
ISSN
1098-1004 (Electronic)
ISSN-L
1059-7794
Statut éditorial
Publié
Date de publication
2014
Peer-reviewed
Oui
Volume
35
Numéro
8
Pages
949-953
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Résumé
Anophthalmia or microphthalmia (A/M), characterized by absent or small eye, can be unilateral or bilateral and represent developmental anomalies due to the mutations in several genes. Recently, mutations in aldehyde dehydrogenase family 1, member A3 (ALDH1A3) also known as retinaldehyde dehydrogenase 3, have been reported to cause A/M. Here, we screened a cohort of 75 patients with A/M and showed that mutations in ALDH1A3 occurred in six families. Based on this series, we estimate that mutations in ALDH1A3 represent a major cause of A/M in consanguineous families, and may be responsible for approximately 10% of the cases. Screening of this gene should be performed in a first line of investigation, together with SOX2.
Pubmed
Web of science
Création de la notice
05/05/2014 14:22
Dernière modification de la notice
20/08/2019 15:56
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