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 ge...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2022-09-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-022-00208-7 |
| _version_ | 1798002887893188608 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Bushra Irum |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T12:00:33Z |
| format | Article |
| id | doaj.art-267301a82aa24a6b82932f590306b1d6 |
| institution | Directory Open Access Journal |
| issn | 2054-345X |
| language | English |
| last_indexed | 2024-04-11T12:00:33Z |
| publishDate | 2022-09-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj.art-267301a82aa24a6b82932f590306b1d62022-12-22T04:24:53ZengNature Publishing GroupHuman Genome Variation2054-345X2022-09-01911310.1038/s41439-022-00208-7A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataractsBushra Irum0Firoz Kabir1Nadav Shoshany2Shahid Y. Khan3Bushra Rauf4Muhammad Asif Naeem5Tanveer A. Qaiser6Sheikh Riazuddin7J. Fielding Hejtmancik8S. Amer Riazuddin9The Wilmer Eye Institute, Johns Hopkins University School of MedicineThe Wilmer Eye Institute, Johns Hopkins University School of MedicineOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of HealthThe Wilmer Eye Institute, Johns Hopkins University School of MedicineThe Wilmer Eye Institute, Johns Hopkins University School of MedicineNational Centre of Excellence in Molecular Biology, University of the PunjabJinnah Burn & Reconstructive Surgery Centre, Jinnah HospitalNational Centre of Excellence in Molecular Biology, University of the PunjabOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of HealthThe Wilmer Eye Institute, Johns Hopkins University School of MedicineAbstract 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.https://doi.org/10.1038/s41439-022-00208-7 |
| spellingShingle | 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 A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts Human Genome Variation |
| title | A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts |
| title_full | A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts |
| title_fullStr | A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts |
| title_full_unstemmed | A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts |
| title_short | A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts |
| title_sort | genomic deletion encompassing crybb2 crybb2p1 is responsible for autosomal recessive congenital cataracts |
| url | https://doi.org/10.1038/s41439-022-00208-7 |
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