Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.
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.
IRO - Institute for Research in Ophthalmology, Sion, Switzerland; Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, Lausanne (UNIL), Switzerland.
Hana
H
Abouzeid
Tatiana
T
Favez
Angélique
A
Schmid
Céline
C
Agosti
Mohammed
M
Youssef
Iman
I
Marzouk
Nihal
N
El Shakankiry
Nader
N
Bayoumi
Francis L
FL
Munier
Daniel F
DF
Schorderet
D000445:Aldehyde Oxidoreductases / Q000235:genetics*; D000595:Amino Acid Sequence; D000853:Anophthalmos / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D003241:Consanguinity; D005123:Eye / Q000201:enzymology / Q000473:pathology; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008850:Microphthalmos / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016415:Sequence Alignment
D000445:Aldehyde Oxidoreductases; C018699:aldehyde dehydrogenase (NAD(P)+)
ALDH1A3; anophthalmia; eye development; microphthalmia