A Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families

Joint Meeting on 4^th World Congress on Human Genetics & Genetic Diseases and 3^rd International Conference on Molecular Medicine & Diagnostics

April 19-20, 2018 Dubai, UAE

Mohammad Yahya Vahidi Mehrjard, Masoud Dehghan Tezerjani and Mohammadreza Dehghani

Shahid Sadoughi University of Medical Sciences, Iran

Scientific Tracks Abstracts: J Mol Genet Med

Abstract :

Anophthalmia or microphthalmia (A/M) describe a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. They have complex etiology with chromosomal, monogenic and environmental causes. From the genetic point of view, it is a highly heterogeneous disease and can be caused by mutations in several different genes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in three patients with severe bilateral anophthalmia from two unrelated consanguineous families. The genetic analysis revealed a homozygous missense mutation, causing a substitution of glycine (Gly) to arginine (Arg) at residue 237 of Aldehyde Dehydrogenase 1 (ALDH1A3). This study consolidates the importance of ALDH1A3 gene screening in autosomal recessive anophthalmia.

Biography :

Mohammad Yahya Vahidi Mehrjardi has completed his PhD in molecular genetics at the age of 29 years from Science and Research Branch Islamic Azad University. He is the Head of Genetics Unit, Yazd Diabetes Research Center and Manager of the Medical Genetics Research Center Shahid Sadoughi University of Medical Sciences. He has published more than 13 papers in reputed journals and he has written a book about diabetes and genetic factors. he has been awarded a science prize of  7thYazd International Student Award in Reproductive Medicine.
Email:mmvahidi@gmail.com