Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.

ABSTRACT:

Background

Classic aniridia is a highly penetrant autosomal dominant disorder characterised by congenital absence of the iris, foveal hypoplasia, optic disc anomalies and progressive opacification of the cornea. >90% of cases of classic aniridia are caused by heterozygous, loss-of-function variants affecting the PAX6 locus.

Methods

Short-read whole genome sequencing was performed on 51 (39 affected) individuals from 37 different families who had screened negative for mutations in the PAX6 coding region.

Results

Likely causative mutations were identified in 22 out of 37 (59%) families. In 19 out of 22 families, the causative genomic changes have an interpretable deleterious impact on the PAX6 locus. Of these 19 families, 1 has a novel heterozygous

SUBMITTER: Hall HN 

PROVIDER: S-EPMC7615962 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature