青少年开角型青光眼的双基因遗传
Digenic Inheritance in Juvenile Open-Angle Glaucoma.
作者信息
Somarajan Bindu I, Gupta Shikha, Mahalingam Karthikeyan, Azmira Kishan, Gupta Viney
机构信息
Department of Ophthalmology, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
出版信息
J Pediatr Genet. 2021 Feb 2;12(2):150-154. doi: 10.1055/s-0040-1722213. eCollection 2023 Jun.
Abstract
Juvenile open-angle glaucoma (JOAG) is an uncommon subset of primary glaucoma with an onset before the age of 40 years. In this case report, we describe the cosegregation of , p.Pro370Leu and , p.Pro432Leu mutations in a family with JOAG. The family with autosomal dominant JOAG belonged to Northern India. The samples of proband and her parents were evaluated by whole exome sequencing. Sanger sequencing was conducted in all the study participants to check the mutations identified. Both and mutations were found to cosegregate in affected individuals leading to a severe JOAG phenotype, thereby suggesting a digenic inheritance of with in this family.
摘要
青少年开角型青光眼（JOAG）是原发性青光眼的一个罕见亚型，发病于40岁之前。在本病例报告中，我们描述了一个JOAG家族中 、p.Pro370Leu和 、p.Pro432Leu突变的共分离情况。这个常染色体显性JOAG家族来自印度北部。通过全外显子组测序对先证者及其父母的样本进行了评估。对所有研究参与者进行了桑格测序，以检查所鉴定的突变。发现 和 突变在受影响个体中共分离，导致严重的JOAG表型，从而提示在这个家族中 与 存在双基因遗传。
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