在巴基斯坦的一个大队列中,遗传性视网膜疾病的综合遗传景观。

IF 4.7 2区 医学 Q1 GENETICS & HEREDITY
Mukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz, Abdur Rashid, Francesca Cancellieri, Asad Munir, Karolina Kaminska, Afia Iqbal, Samra Javed, Muhammad Dawood, Hafiz Muhammad Azhar Baig, Shamim Saleha, Shagufta Naz, Humera Kausar, Ali Muhammad Waryah, Andrea Superti-Furga, Muhammad Ansar, Carlo Rivolta
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引用次数: 0

摘要

遗传性视网膜疾病(IRDs)是一组罕见的孟德尔疾病,通常会导致进行性视力丧失,最终可能导致完全失明。在这项研究中,我们调查了来自巴基斯坦的一大批 IRD 患者,巴基斯坦是世界上人口第五多的国家,其人口特征也非常明显,如近亲结婚率高、内婚率高和民族众多。具体来说,我们研究了来自三个非常大的地理区域的 213 个无血缘关系的家庭(722 名患者)。我们对 171 个家系(80.3%)进行了精确的分子诊断,并在 60 个不同的 IRD 相关基因中检测到了致病变异,揭示了一种与其他欧洲或亚洲人群之前的数据大相径庭的突变景观,这种突变景观在很大程度上受内婚和罕见或复发性创始突变事件的影响。据我们所知,这项工作是对巴基斯坦人口中 IRD 进行的最大规模的遗传研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.

Inherited retinal diseases (IRDs) are a group of rare Mendelian disorders that often result in progressive vision loss and potentially to complete blindness at the end stage. In this study, we investigated a large cohort of patients with IRDs from Pakistan, the world's fifth most populous country, which is also characterized by distinctive demographic features, such as a high prevalence of consanguinity, endogamy, and a wide variety of ethnic groups. Specifically, we examined a total of 213 unrelated families (722 affected individuals) from three very large geographical regions. We achieved precise molecular diagnosis in 171 pedigrees (80.3%) and detected causative variants in 60 different IRD-associated genes, revealing a mutational landscape that differed substantially from previous data from other European or Asian populations, heavily shaped by endogamy and rare or recurrent founder mutational events. To our knowledge, this work represents the largest genetic study on IRDs within the Pakistani population.

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来源期刊
NPJ Genomic Medicine
NPJ Genomic Medicine Biochemistry, Genetics and Molecular Biology-Molecular Biology
CiteScore
9.40
自引率
1.90%
发文量
67
审稿时长
17 weeks
期刊介绍: npj Genomic Medicine is an international, peer-reviewed journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine. The journal defines genomic medicine as "diagnosis, prognosis, prevention and/or treatment of disease and disorders of the mind and body, using approaches informed or enabled by knowledge of the genome and the molecules it encodes." Relevant and high-impact papers that encompass studies of individuals, families, or populations are considered for publication. An emphasis will include coupling detailed phenotype and genome sequencing information, both enabled by new technologies and informatics, to delineate the underlying aetiology of disease. Clinical recommendations and/or guidelines of how that data should be used in the clinical management of those patients in the study, and others, are also encouraged.
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