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


Autoria(s): Abouzeid H.; Favez T.; Schmid A.; Agosti C.; Youssef M.; Marzouk I.; El Shakankiry N.; Bayoumi N.; Munier F.L.; Schorderet D.F.
Data(s)

2014

Resumo

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.

Identificador

http://serval.unil.ch/?id=serval:BIB_D7199AA0FEBB

isbn:1098-1004 (Electronic)

pmid:24777706

doi:10.1002/humu.22580

isiid:000339431600007

Idioma(s)

en

Fonte

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

Tipo

info:eu-repo/semantics/article

article