Mutation in the ALDH1A3 Gene Causes Anophthalmia in pediatric patient in a large Iranian Consanguineous Families

Introduction: Anophthalmia is a rare group of congenital disorder show ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. They have several etiology with chromosomal, monogenic and environmental causes. Genetic factors inthis patient very different so it is a highly heterogeneous disease and can be caused by mutations in several genes Materials & Methods: In this study We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in to pediatric patient with severe bilateral anophthalmia from a large consanguineous families.Results: The genetic study showed a homozygous missense mutation, causing a substitution of glycine (Gly) to arginine (Arg) at residue 237 of Aldehyde Dehydrogenase 1 (ALDH1A3).Conclusion & discussion: This study confirm the importance role of ALDH1A3 gene screening in autosomal recessive anophthalmia

کلیدواژه ها:

Anophthalmia ، ALDH1A3 ، consanguinity ، autosomal recessive ، SNP array