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Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families.
Human Genome Variation Pub Date : 2020-05-12 , DOI: 10.1038/s41439-020-0100-8
Raheela Nadeem 1 , Firoz Kabir 2 , Jiali Li 3, 4 , Libe Gradstein 3 , Xiaodong Jiao 3 , Bushra Rauf 1 , Muhammad Asif Naeem 1 , Muhammad Zaman Assir 5 , Sheikh Riazuddin 1, 5 , Radha Ayyagari 6 , J Fielding Hejtmancik 3 , S Amer Riazuddin 2
Affiliation  

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.

中文翻译:

CERKL和RP1中的突变导致巴基斯坦家庭出现色素性视网膜炎。

进行这项研究是为了确定近亲巴基斯坦家庭视网膜营养不良的遗传基础。我们招募了两个患有色素性视网膜炎(RP)的家庭,这些家庭表现出视觉困难,包括夜视和狭窄视野。连锁分析和Sanger测序结果鉴定出一个家族中CERKL外显子5中先前报道的无意义突变c.847C> T,RP1外显子4 c.delAGAA4218_4221中新的四碱基对缺失,导致第二个家族中的蛋白质过早终止。在这里,我们报告了两个引起RP的突变,扩展了疾病的遗传异质性。
更新日期:2020-05-12
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