毛里塔尼亚原发性先天性青光眼家族中青光眼候选基因的突变谱
Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.
作者信息
Hadrami Mouna, Bonnet Crystel, Zeitz Christina, Veten Fatimetou, Biya Med, Hamed Cheikh T, Condroyer Christel, Wang Panfeng, Sidi Med Mahmoud, Cheikh Sidi, Zhang Qingjiong, Audo Isabelle, Petit Christine, Houmeida Ahmed
机构信息
Unité de Recherche sur les Biomarqueurs dans la Population Mauritanienne, Université des Sciences de Technologies et de médecine (USTM), Nouakchott, Mauritanie.
Syndrome de Usher et Autres Atteintes Rétino-Cochléaires, Institut de la Vision, Paris, France.
出版信息
Mol Vis. 2019 Jul 13;25:373-381. eCollection 2019.
PURPOSE
Intraocular pressure leading to glaucoma is a major cause of childhood blindness in developing countries. In this study, we sought to identify gene variants potentially associated with primary congenital glaucoma (PCG) in the Mauritanian population.
METHODS
Using next-generation sequencing (NGS), a panel of PCG candidate genes was screened in a search for DNA mutations in four families with multiple occurrences of PCG.
RESULTS
Targeted exome sequencing analysis revealed predicted pathogenic mutations in four genes: (c.217_218delTC, p.Ser73Valfs*150), (878C>A, p.T293K), (c.601T>G, p.Cys201Gly), and (c.2078A>G, p.Asn693Ser), each carried by a different family.
CONCLUSIONS
Genetic variation associated with PCG in this study reflects the ethnic heterogeneity of the Mauritanian population. However, a larger cohort is needed to identify additional families carrying these mutations and confirm their biologic role.
目的
在发展中国家，导致青光眼的眼压升高是儿童失明的主要原因。在本研究中，我们试图在毛里塔尼亚人群中鉴定可能与原发性先天性青光眼（PCG）相关的基因变异。
方法
利用下一代测序（NGS）技术，对一组PCG候选基因进行筛选，以寻找四个有多发性PCG病例的家庭中的DNA突变。
结果
靶向外显子组测序分析在四个基因中发现了预测的致病突变：（c.217_218delTC，p.Ser73Valfs*150）、（878C>A，p.T293K）、（c.601T>G，p.Cys201Gly）和（c.2078A>G，p.Asn693Ser），每个突变分别由不同的家庭携带。
结论
本研究中与PCG相关的基因变异反映了毛里塔尼亚人群的种族异质性。然而，需要更大的队列来鉴定携带这些突变的其他家庭并确认其生物学作用。
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