Human Genome Variation (Sep 2022)

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts

  • Bushra Irum,
  • Firoz Kabir,
  • Nadav Shoshany,
  • Shahid Y. Khan,
  • Bushra Rauf,
  • Muhammad Asif Naeem,
  • Tanveer A. Qaiser,
  • Sheikh Riazuddin,
  • J. Fielding Hejtmancik,
  • S. Amer Riazuddin

DOI
https://doi.org/10.1038/s41439-022-00208-7
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 3

Abstract

Read online

Abstract Here we report a consanguineous Pakistani family with multiple affected individuals with autosomal recessive congenital cataract (arCC). Exclusion analysis established linkage to chromosome 22q, and Sanger sequencing coupled with PCR-based chromosome walking identified a large homozygous genomic deletion. Our data suggest that this deletion leads to CRYBB2-CRYBB2P1 fusion, consisting of exons 1–5 of CRYBB2 and exon 6 of CRYBB2P1, the latter of which harbors the c.463 C > T (p.Gln155*) mutation, and is responsible for arCC.