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

Details

Serval ID
serval:BIB_D7199AA0FEBB
Type
Article: article from journal or magazin.
Collection
Publications
Title
Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.
Journal
Human Mutation
Author(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
Publication state
Published
Issued date
2014
Peer-reviewed
Oui
Volume
35
Number
8
Pages
949-953
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Abstract
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
Create date
05/05/2014 14:22
Last modification date
20/08/2019 15:56
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