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What is ALDH1A3 Mutations in Anophthalmia Cases about?

This study identifies novel mutations in the ALDH1A3 gene associated with autosomal recessive anophthalmia and microphthalmia in two consanguineous Pakistani families. Whole exome and Sanger sequencing revealed a missense mutation and a frameshift mutation in the ALDH1A3 gene, which are likely responsible for the condition in the affected individuals. The findings expand the understanding of pathogenic variants in ALDH1A3 and its critical role in eye development.

Author

kashmalasamad

Language

EN