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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...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2022
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| Materias: | |
| 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 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Irum, Bushra |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-9458725 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-94587252022-09-10 A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts 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 Hum Genome Var Data Report 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. Nature Publishing Group UK 2022-09-08 /pmc/articles/PMC9458725/ /pubmed/36075891 http://dx.doi.org/10.1038/s41439-022-00208-7 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
| spellingShingle | Data Report 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 A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts |
| 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 |
| topic | Data Report |
| url | 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 |
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