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:10.1038/s41439-022-00208-7

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Article number	31
Journal	Human Genome Variation
Volume	9
Issue number	1
DOIs	https://doi.org/10.1038/s41439-022-00208-7
State	Published - Dec 2022

ASJC Scopus subject areas

Genetics
Molecular Biology
Biochemistry

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title = "A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts",

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.",

author = "Bushra Irum and Firoz Kabir and Nadav Shoshany and Khan, {Shahid Y.} and Bushra Rauf and Naeem, {Muhammad Asif} and Qaiser, {Tanveer A.} and Sheikh Riazuddin and Hejtmancik, {J. Fielding} and Riazuddin, {S. Amer}",

note = "Funding Information: The authors are grateful to all family members for their participation in this study. This study was supported in part by the King Khaled Eye Specialist Hospital-Johns Hopkins University collaboration grant (S.A.R.) and the National Eye Institute Grant 1R01EY022714 (S.A.R.). Publisher Copyright: {\textcopyright} 2022, The Author(s).",

year = "2022",

month = dec,

doi = "10.1038/s41439-022-00208-7",

language = "English (US)",

volume = "9",

journal = "Human Genome Variation",

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AU - Irum, Bushra

AU - Kabir, Firoz

AU - Shoshany, Nadav

AU - Khan, Shahid Y.

AU - Rauf, Bushra

AU - Naeem, Muhammad Asif

AU - Qaiser, Tanveer A.

AU - Riazuddin, Sheikh

AU - Hejtmancik, J. Fielding

AU - Riazuddin, S. Amer

N1 - Funding Information: The authors are grateful to all family members for their participation in this study. This study was supported in part by the King Khaled Eye Specialist Hospital-Johns Hopkins University collaboration grant (S.A.R.) and the National Eye Institute Grant 1R01EY022714 (S.A.R.). Publisher Copyright: © 2022, The Author(s).

PY - 2022/12

Y1 - 2022/12

N2 - 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.

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

Abstract

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