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

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 del...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9458725/
https://www.ncbi.nlm.nih.gov/pubmed/36075891
http://dx.doi.org/10.1038/s41439-022-00208-7
Descripción
Sumario: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.

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