Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract.

ABSTRACT:

Purpose

To identify the genetic basis of an unusual pediatric cortical cataract demonstrating autosomal dominant inheritance in a large European-Australian pedigree.

Methods

DNA from four affected individuals were exome sequenced utilizing a NimbleGen SeqCap EZ Exome V3 kit and HiSeq 2500. DNA from 12 affected and four unaffected individuals were genotyped using Human OmniExpress-24 BeadChips. Multipoint linkage and haplotyping were performed (Superlink-Online SNP). DNA from one affected individual and his unaffected father were whole-genome sequenced on a HiSeq X Ten system. Rare small insertions/deletions and single-nucleotide variants (SNVs) were identified in the disease-linked region (Golden Helix SVS). Combined Annotation Dependent Depletion (CADD) analysis predicted v

SUBMITTER: Young TL 

PROVIDER: S-EPMC9234370 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature