Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

被引：4

作者：

Nadeem, Raheela ^{[1
]}

Kabir, Firoz ^{[2
]}

Li, Jiali ^{[3
,4
]}

Gradstein, Libe ^{[3
]}

Jiao, Xiaodong ^{[3
]}

Rauf, Bushra ^{[1
]}

Naeem, Muhammad Asif ^{[1
]}

Assir, Muhammad Zaman ^{[5
]}

Riazuddin, Sheikh ^{[1
,5
]}

Ayyagari, Radha ^{[6
]}

Hejtmancik, J. Fielding ^{[3
]}

Riazuddin, S. Amer ^{[2
]}

机构：

[1] Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore 53700, Pakistan

[2] Johns Hopkins Univ, Sch Med, Wilmer Eye Inst, Baltimore, MD 21287 USA

[3] NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA

[4] Southern Med Univ, Zhujiang Hosp, Dept Ophthalmol, Guangzhou 515282, Peoples R China

[5] Univ Hlth Sci, Allama Iqbal Med Coll, Lahore 54550, Pakistan

[6] Univ Calif San Diego, Shiley Eye Inst, La Jolla, CA 92093 USA

来源：

HUMAN GENOME VARIATION | 2020年 / 7卷 / 01期

关键词：

FOUNDER MUTATION; DYSTROPHY; GENE;

D O I：

10.1038/s41439-020-0100-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：4

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