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The genetics of rod-cone dystrophy in Arab countries: a systematic review
European Journal of Human Genetics ( IF 3.7 ) Pub Date : 2020-11-13 , DOI: 10.1038/s41431-020-00754-0
Lama Jaffal 1, 2 , Hawraa Joumaa 2 , Zamzam Mrad 2 , Christina Zeitz 3 , Isabelle Audo 3, 4, 5 , Said El Shamieh 6
Affiliation  

Since a substantial difference in the prevalence of genetic causes of rod-cone dystrophy (RCD) was found among different populations, we conducted a systematic review of the genetic findings associated with RCD in Arab countries. Of the 816 articles retrieved from PubMed, 31 studies conducted on 407 participants from 11 countries were reviewed. Next-generation sequencing (NGS) was the most commonly used technique (68%). Autosomal recessive pattern was the most common pattern of inheritance (97%) and half of the known genes associated with RCD (32/63) were identified. In the Kingdom of Saudi Arabia, in addition to RP1 (20%) and TULP1 (20%), gene defects in EYS (8%) and CRB1 (7%) were also prevalently mutated. In North Africa, the main gene defects were in MERTK (18%) and RLBP1 (18%). Considering all countries, RP1 and TULP1 remained the most prevalently mutated. Variants in TULP1, RP1, EYS, MERTK, and RLBP1 were the most prevalent, possibly because of founder effects. On the other hand, only ten Individuals were found to have dominant or X-linked RCD. This is the first time a catalog of RCD genetic variations has been established in subjects from the Arabi countries. Although the last decade has seen significant interest, expertise, and an increase in RCD scientific publication, much work needs to be conducted.



中文翻译:

阿拉伯国家视杆细胞营养不良的遗传学:系统评价

由于不同人群中视杆细胞营养不良 (RCD) 遗传原因的患病率存在​​显着差异,因此我们对阿拉伯国家与 RCD 相关的遗传发现进行了系统回顾。从 PubMed 检索到的 816 篇文章中,对来自 11 个国家的 407 名参与者进行的 31 项研究进行了审查。下一代测序 (NGS) 是最常用的技术 (68%)。常染色体隐性遗传模式是最常见的遗传模式 (97%),并且鉴定出与 RCD 相关的已知基因的一半 (32/63)。在沙特阿拉伯王国,除了RP1(20%)和TULP1 (20%)外, EYS(8%)和CRB1(7%)的基因缺陷也普遍发生突变。在北非,主要的基因缺陷是MERTK (18%) 和RLBP1 (18%)。考虑到所有国家,RP1TULP1仍然是最常见的突变。TULP1RP1、EYS、MERTKRLBP1的变体最为普遍,可能是由于创始人效应。另一方面,只有 10 个人被发现患有显性或 X 连锁 RCD。这是首次在阿拉伯国家的受试者中建立 RCD 遗传变异目录。尽管过去十年人们对 RCD 科学出版物产生了浓厚的兴趣、专业知识和增加,但仍有大量工作要做。

更新日期:2020-11-15
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