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

Abouzeid, Hana; Favez, Tatiana; Schmid, Angélique; Agosti, Céline; Youssef, Mohammed; Marzouk, Iman; El Shakankiry, Nihal; Bayoumi, Nader; Munier, Francis L.; Schorderet, Daniel F.

doi:10.1002/humu.22580

Scientific article

English

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

Contributors

Abouzeid, Hana; Favez, Tatiana; Schmid, Angélique; Agosti, Céline; Youssef, Mohammed; Marzouk, Iman; El Shakankiry, Nihal; Bayoumi, Nader; Munier, Francis L.; Schorderet, Daniel F.

Published in

Human Mutation, vol. 35, no. 8, p. 949-953

Publication date

2014

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. (C) 2014 Wiley Periodicals, Inc.

Keywords

ALDH1A3
Anophthalmia
Microphthalmia
Eye development

UNIGE affiliation entities

Not a UNIGE publication

UNIGE research groups

Ophtalmologie expérimentale (925)

Citation (ISO format)

ABOUZEID, Hana et al. Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families. In: Human Mutation, 2014, vol. 35, n° 8, p. 949–953. doi: 10.1002/humu.22580

Article (Published version)

Identifiers

PID : unige:142248
DOI : 10.1002/humu.22580
PMID : 24777706

Additional URL for this publication

http://doi.wiley.com/10.1002/humu.22580

Journal ISSN

1059-7794

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29/09/2020 09:44:00

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29/09/2020 09:44:00

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31/10/2024 19:48:51

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

Contributors

Published in

Publication date

Abstract

Keywords

UNIGE affiliation entities

UNIGE research groups

Citation (ISO format)

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Additional URL for this publication

Journal ISSN

Technical informations

Creation

First validation

Update

Status update

Last indexation