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- Title
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.
- Authors
Irum, Bushra; Kabir, Firoz; Shoshany, Nadav; Khan, Shahid Y.; Rauf, Bushra; Naeem, Muhammad Asif; Qaiser, Tanveer A.; Riazuddin, Sheikh; Hejtmancik, J. Fielding; Riazuddin, S. Amer
- 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.
- Subjects
CATARACT; CHROMOSOMES; GENETIC mutation; DYSTROPHY
- Publication
Human Genome Variation, 2022, Vol 9, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-022-00208-7