Suppr超能文献

在 8 个巴基斯坦眼皮肤白化病(OCA)家系中对 和 基因中的新型和已知致病性变异进行描述。

Delineating Novel and Known Pathogenic Variants in , and Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.

机构信息

Department of Biochemistry, University of Health Sciences (UHS), Lahore 54600, Pakistan.

Department of Biochemistry, King Edward Medical University, Lahore 54000, Pakistan.

出版信息

Genes (Basel). 2022 Mar 12;13(3):503. doi: 10.3390/genes13030503.

Abstract

Oculocutaneous albinism (OCA) is associated with a wide range of clinical presentations and has been categorized with syndromic and non-syndromic features. The most common causative genes in non-syndromic OCA are TYR and OCA2 and HSP1 is in the syndromic albinism. The objective of this study was to identify pathogenic variants in congenital OCA families from Pakistan. Eight consanguineous families were recruited, and clinical and ophthalmological examination was carried out to diagnose the disease. Whole blood was collected from the participating individuals, and genomic DNA was extracted for sequencing analysis. TruSight one-panel sequencing was carried out on one affected individual of each family, and termination Sanger sequencing was carried out to establish the co-segregation of the causative gene or genes. In silico analysis was conducted to predict the causative pathogenic variants. Two families were found to have novel genetic pathogenic variants, and six families harbored previously reported variants. One novel compound heterozygous pathogenic variant in the TYR gene, c.1002delA; p.Ala335LeufsTer20, a novel frameshift deletion pathogenic variant and c.832C>T; and p.Arg278Ter (a known pathogenic variant) were found in one family, whereas HPS1; c.437G>A; and p.Trp146Ter were detected in another family. The identification of new and previous pathogenic variants in TYR, OCA2, and HPS1 genes are causative of congenital OCA, and these findings are expanding the heterogeneity of OCA.

摘要

眼皮肤白化病(OCA)与广泛的临床表现有关,并已分为综合征和非综合征特征。非综合征性 OCA 最常见的致病基因是 TYR 和 OCA2,HSP1 是综合征性白化病的致病基因。本研究的目的是在巴基斯坦的先天性 OCA 家族中鉴定致病变异。招募了 8 个近亲家族,进行了临床和眼科检查以诊断疾病。从参与的个体中采集全血,并提取基因组 DNA 进行测序分析。对每个家庭的一个受影响个体进行 TruSight one-panel 测序,并进行终止 Sanger 测序以确定致病基因或基因的共分离。进行了计算机分析以预测致病的变异。发现两个家庭具有新的遗传致病变异,六个家庭具有先前报道的变异。一个新的 TYR 基因复合杂合致病变异,c.1002delA;p.Ala335LeufsTer20,一个新的移码缺失致病变异和 c.832C>T;p.Arg278Ter(已知的致病变异)在一个家庭中发现,而 HPS1;c.437G>A;p.Trp146Ter 在另一个家庭中发现。在 TYR、OCA2 和 HPS1 基因中鉴定出新的和以前的致病变异是先天性 OCA 的致病原因,这些发现扩展了 OCA 的异质性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dffe/8950407/c6feb8239508/genes-13-00503-g001.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验