Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.

ABSTRACT:

Background

Lens development is orchestrated by transcription factors. Disease-causing variants in transcription factors and their developmental target genes are associated with congenital cataracts and other eye anomalies.

Methods

Using whole exome sequencing, we identified disease-causing variants in two large British families and one isolated case with autosomal dominant congenital cataract. Bioinformatics analysis confirmed these disease-causing mutations as rare or novel variants, with a moderate to damaging pathogenicity score, with testing for segregation within the families using direct Sanger sequencing.

Results

Family A had a missense variant (c.184 G>A; p.V62M) in PAX6 and affected individuals presented with nuclear cataract. Family B had a frameshift varian

SUBMITTER: Berry V 

PROVIDER: S-EPMC9307513 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature