Open AccessIdentification of a GNE homozygous mutation in a Han‐Chinese family with GNE myopathy
Author(s) -
Wu Yuan,
Yuan Lamei,
Guo Yi,
Lu Anjie,
Zheng Wen,
Xu Hongbo,
Yang Yan,
Hu Pengzhi,
Gu Shaojuan,
Wang Bingqi,
Deng Hao
Publication year - 2018
Publication title -
journal of cellular and molecular medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.44
H-Index - 130
eISSN - 1582-4934
pISSN - 1582-1838
DOI - 10.1111/jcmm.13827
Subject(s) - missense mutation , myopathy , mutation , phenotype , gene , genetics , biology , medicine , microbiology and biotechnology
GNE myopathy is a rare, recessively inherited, early adult‐onset myopathy, characterized by distal and proximal muscle degeneration which often spares the quadriceps. It is caused by mutations in the UDP ‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase gene ( GNE ). This study aimed to identify the disease‐causing mutation in a three‐generation Han‐Chinese family with members who have been diagnosed with myopathy. A homozygous missense mutation, c.1627G>A (p.V543M) in the GNE gene co‐segregates with the myopathy present in this family. A GNE myopathy diagnosis is evidenced by characteristic clinical manifestations, rimmed vacuoles in muscle biopsies and the presence of biallelic GNE mutations. This finding broadens the GNE gene mutation spectrum and extends the GNE myopathy phenotype spectrum.