Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

This study was conducted to identify the genetic basis of retinal dystrophies in consanguineous Pakistani families. We recruited two families with retinitis pigmentosa (RP) displaying visual difficulties, including nyctalopia and constricted visual fields. Linkage analysis and Sanger sequencing resu...

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Autores principales: Nadeem, Raheela, Kabir, Firoz, Li, Jiali, Gradstein, Libe, Jiao, Xiaodong, Rauf, Bushra, Naeem, Muhammad Asif, Assir, Muhammad Zaman, Riazuddin, Sheikh, Ayyagari, Radha, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217820/
https://www.ncbi.nlm.nih.gov/pubmed/32411380
http://dx.doi.org/10.1038/s41439-020-0100-8
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author Nadeem, Raheela
Kabir, Firoz
Li, Jiali
Gradstein, Libe
Jiao, Xiaodong
Rauf, Bushra
Naeem, Muhammad Asif
Assir, Muhammad Zaman
Riazuddin, Sheikh
Ayyagari, Radha
Hejtmancik, J. Fielding
Riazuddin, S. Amer
author_facet Nadeem, Raheela
Kabir, Firoz
Li, Jiali
Gradstein, Libe
Jiao, Xiaodong
Rauf, Bushra
Naeem, Muhammad Asif
Assir, Muhammad Zaman
Riazuddin, Sheikh
Ayyagari, Radha
Hejtmancik, J. Fielding
Riazuddin, S. Amer
author_sort Nadeem, Raheela
collection PubMed
description This study was conducted to identify the genetic basis of retinal dystrophies in consanguineous Pakistani families. We recruited two families with retinitis pigmentosa (RP) displaying visual difficulties, including nyctalopia and constricted visual fields. Linkage analysis and Sanger sequencing resulted in the identification of a previously reported nonsense mutation, c.847C > T, in exon 5 of CERKL in one family and a novel four-base pair deletion in exon 4 of RP1, c.delAGAA4218_4221, leading to premature protein termination in the second family. Here, we report two RP-causing mutations extending the genetic heterogeneity of the disease.
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spelling pubmed-72178202020-05-14 Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families Nadeem, Raheela Kabir, Firoz Li, Jiali Gradstein, Libe Jiao, Xiaodong Rauf, Bushra Naeem, Muhammad Asif Assir, Muhammad Zaman Riazuddin, Sheikh Ayyagari, Radha Hejtmancik, J. Fielding Riazuddin, S. Amer Hum Genome Var Data Report This study was conducted to identify the genetic basis of retinal dystrophies in consanguineous Pakistani families. We recruited two families with retinitis pigmentosa (RP) displaying visual difficulties, including nyctalopia and constricted visual fields. Linkage analysis and Sanger sequencing resulted in the identification of a previously reported nonsense mutation, c.847C > T, in exon 5 of CERKL in one family and a novel four-base pair deletion in exon 4 of RP1, c.delAGAA4218_4221, leading to premature protein termination in the second family. Here, we report two RP-causing mutations extending the genetic heterogeneity of the disease. Nature Publishing Group UK 2020-05-12 /pmc/articles/PMC7217820/ /pubmed/32411380 http://dx.doi.org/10.1038/s41439-020-0100-8 Text en © The Author(s) 2020 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/.
spellingShingle Data Report
Nadeem, Raheela
Kabir, Firoz
Li, Jiali
Gradstein, Libe
Jiao, Xiaodong
Rauf, Bushra
Naeem, Muhammad Asif
Assir, Muhammad Zaman
Riazuddin, Sheikh
Ayyagari, Radha
Hejtmancik, J. Fielding
Riazuddin, S. Amer
Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families
title Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families
title_full Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families
title_fullStr Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families
title_full_unstemmed Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families
title_short Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families
title_sort mutations in cerkl and rp1 cause retinitis pigmentosa in pakistani families
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217820/
https://www.ncbi.nlm.nih.gov/pubmed/32411380
http://dx.doi.org/10.1038/s41439-020-0100-8
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