由新发突变引起的视神经萎缩、白内障、脂肪营养不良/脂肪萎缩和周围神经病变。
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo mutation.
作者信息
Bourne Stephanie C, Townsend Katelin N, Shyr Casper, Matthews Allison, Lear Scott A, Attariwala Raj, Lehman Anna, Wasserman Wyeth W, van Karnebeek Clara, Sinclair Graham, Vallance Hilary, Gibson William T
机构信息
Department of Microbiology and Immunology, Dalhousie University, Halifax, Nova Scotia B3H 4R2, Canada.
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.
出版信息
Cold Spring Harb Mol Case Stud. 2017 Jan;3(1):a001156. doi: 10.1101/mcs.a001156.
We describe a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a c.235C > G p.(Leu79Val) variant in the optic atrophy 3 () gene that was confirmed to be de novo. This report expands the severity of the phenotypic spectrum of autosomal dominant mutations.
我们描述了一位患有白内障、视神经萎缩、脂肪营养不良/脂肪萎缩和周围神经病变的女性。外显子组测序在视神经萎缩3（OPA3）基因中鉴定出一个c.235C>G p.(Leu79Val)变异，该变异经证实为新发突变。本报告扩展了常染色体显性OPA3突变表型谱的严重程度。
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