Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

Raheela Nadeem; Firoz Kabir; Jiali Li; Libe Gradstein; Xiaodong Jiao; Bushra Rauf; Muhammad Asif Naeem; Muhammad Zaman Assir; Sheikh Riazuddin; Radha Ayyagari; J. Fielding Hejtmancik; S. Amer Riazuddin

doi:10.1038/s41439-020-0100-8

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

Raheela Nadeem, Firoz Kabir, Jiali Li, Libe Gradstein, Xiaodong Jiao, Bushra Rauf, Muhammad Asif Naeem, Muhammad Zaman Assir, Sheikh Riazuddin, Radha Ayyagari, J. Fielding Hejtmancik, S. Amer Riazuddin

School of Medicine

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

1 Scopus citations

Abstract

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.

Original language	English (US)
Article number	14
Journal	Human Genome Variation
Volume	7
Issue number	1
DOIs	https://doi.org/10.1038/s41439-020-0100-8
State	Published - Dec 1 2020

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Genetics

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title = "Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families",

abstract = "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.",

author = "Raheela Nadeem and Firoz Kabir and Jiali Li and Libe Gradstein and Xiaodong Jiao and Bushra Rauf and Naeem, {Muhammad Asif} and Assir, {Muhammad Zaman} and Sheikh Riazuddin and Radha Ayyagari and Hejtmancik, {J. Fielding} and Riazuddin, {S. Amer}",

note = "Funding Information: The authors are thankful to all family members for their participation in this study. This study was supported, in part, by the Higher Education Comission, Islamabad Pakistan and the National Eye Institute Grant R01EY021237 (RA & SAR). Publisher Copyright: {\textcopyright} 2020, The Author(s).",

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doi = "10.1038/s41439-020-0100-8",

language = "English (US)",

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AU - Nadeem, Raheela

AU - Kabir, Firoz

AU - Li, Jiali

AU - Gradstein, Libe

AU - Jiao, Xiaodong

AU - Rauf, Bushra

AU - Naeem, Muhammad Asif

AU - Assir, Muhammad Zaman

AU - Riazuddin, Sheikh

AU - Ayyagari, Radha

AU - Hejtmancik, J. Fielding

AU - Riazuddin, S. Amer

N1 - Funding Information: The authors are thankful to all family members for their participation in this study. This study was supported, in part, by the Higher Education Comission, Islamabad Pakistan and the National Eye Institute Grant R01EY021237 (RA & SAR). Publisher Copyright: © 2020, The Author(s).

PY - 2020/12/1

Y1 - 2020/12/1

N2 - 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.

AB - 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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Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

Abstract

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