Homozygosity for one splice-site and two missense mutations in the ALDH1A3 gene was identified in three consanguineous families segregating with anophthalmia and microphthalmia (A/M); in one of these families, affected individuals with a homozygous missense variant in ALDH1A3 were also diagnosed with autism (Fares-Taie et al., 2013). However, in a report in which additional individuals with anophthalmia and microphthalmia (A/M) also presented with autistic features, the authors suggested that such features may be the result of social deprivation and inadequate parenting during early infancy, rather than ALDH1A3 mutations per se (Nur Semerci et al., 2014).
Molecular Function
This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
