ALDH1A3 gene

Overview

Gene (OMIM No.)	ALDH1A3 (#600463)
Function of gene/protein	Protein: aldehyde dehydrogenase 1 family member A3 Catalyses formation of retinoic acid, which is required for normal eye and nasal development during embryogenesis
Clinical phenotype (OMIM phenotype no.)	Microphthalmia, isolated 8 (#615113)
Inheritance	Autosomal recessive
Ocular features	Microphthalmia, anophthalmia, coloboma (MAC) spectrum (usually bilateral) Optic nerve/chiasm hypoplasia
Systemic features	Extraocular features are rare but mainly neurocognitive in nature if present
Key investigations	B-scan USS to measure axial length to document microphthalmia Electrophysiology MRI brain and orbit Developmental assessment may be indicated
Molecular diagnosis	Next generation sequencing Targeted gene panels (MAC) Whole genome sequencing
Management	Ocular Management of MAC Systemic Multidisciplinary approach
Therapies under research	None at present
Further information	OMIM

Fares-Taie L, Gerber S, Chassaing N, et al. ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. Am J Hum Genet. 2013;92(2):265‐270
Hsu LC, Chang WC, Hiraoka L, Hsieh CL. Molecular cloning, genomic organization, and chromosomal localization of an additional human aldehyde dehydrogenase gene, ALDH6. Genomics. 1994;24(2):333‐341
Moretti A, Li J, Donini S, Sobol RW, Rizzi M, Garavaglia S. Crystal structure of human aldehyde dehydrogenase 1A3 complexed with NAD+ and retinoic acid. Sci Rep. 2016;6:35710
Roos L, Fang M, Dali C, et al. A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia. Clin Genet. 2014;86(3):276‐281
Aldahmesh MA, Khan AO, Hijazi H, Alkuraya FS. Mutations in ALDH1A3 cause microphthalmia. Clin Genet. 2013;84(2):128‐131

Updated on November 30, 2020

Was this article helpful?