快速全基因组测序在一名患有胆汁淤积症的7周龄男性中鉴定出一种与尼曼-匹克C1型病相关的新型纯合变异。
Rapid whole-genome sequencing identifies a novel homozygous variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.
作者信息
Hildreth Amber, Wigby Kristen, Chowdhury Shimul, Nahas Shareef, Barea Jaime, Ordonez Paulina, Batalov Sergey, Dimmock David, Kingsmore Stephen
机构信息
Rady Children's Institute of Genomic Medicine, San Diego, California 92123, USA.
Department of Pediatrics, Division of Gastroenterology, University of California San Diego, La Jolla, California 92093, USA.
出版信息
Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5). doi: 10.1101/mcs.a001966. Print 2017 Sep.
Abstract
Niemann-Pick type C disease (NPC; OMIM #257220) is an inborn error of intracellular cholesterol trafficking. It is an autosomal recessive disorder caused predominantly by mutations in Although characterized as a progressive neurological disorder, it can also cause cholestasis and liver dysfunction because of intrahepatocyte lipid accumulation. We report a 7-wk-old infant who was admitted with neonatal cholestasis, and who was diagnosed with a novel homozygous stop-gain variant in by rapid whole-genome sequencing (WGS). WGS results were obtained 16 d before return of the standard clinical genetic test results and prompted initiation of targeted therapy.
摘要
尼曼-匹克C型病（NPC；OMIM #257220）是一种细胞内胆固醇转运的先天性代谢缺陷病。它是一种常染色体隐性疾病，主要由[此处原文缺失相关基因名称]中的突变引起。尽管其特征为进行性神经疾病，但由于肝内脂质蓄积，它也可导致胆汁淤积和肝功能障碍。我们报告了一名7周大的婴儿，因新生儿胆汁淤积入院，通过快速全基因组测序（WGS）诊断出[此处原文缺失相关基因名称]中存在一种新发现的纯合性终止获得变异。在标准临床基因检测结果返回前16天获得了WGS结果，并促使启动了靶向治疗。
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