Identification of a GNE Homozygous Mutation in a Han-Chinese Family with GNE Myopathy

Overview

Journal J Cell Mol Med

Specialties Cell Biology
Molecular Biology

Date 2018 Aug 31

PMID 30160005

Citations 7

Authors

Yuan Wu

Lamei Yuan

Yi Guo

Anjie Lu

Wen Zheng

Hongbo Xu

Yan Yang

Pengzhi Hu

Shaojuan Gu

Bingqi Wang

Hao Deng

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

The role of amyloid β in the pathological mechanism of GNE myopathy.

Zhang T, Shang R, Miao J Neurol Sci. 2022; 43(11):6309-6321.

PMID: 35904705 PMC: 9616754. DOI: 10.1007/s10072-022-06301-7.

Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review.

Xu Z, Xiang J, Luan X, Geng Z, Cao L Clin Case Rep. 2022; 10(4):e05659.

PMID: 35414913 PMC: 8978988. DOI: 10.1002/ccr3.5659.

Clinical, genetic, and pathological characterization of GNE myopathy in China.

Lv X, Xu L, Lin P, Yan C Neurol Sci. 2022; 43(7):4483-4491.

PMID: 35138478 DOI: 10.1007/s10072-022-05938-8.

Expanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centre.

Zhang K, Duan H, Li Q, Luo Y, Bi F, Huang K J Cell Mol Med. 2021; 25(22):10494-10503.

PMID: 34676965 PMC: 8581342. DOI: 10.1111/jcmm.16978.

Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review.

Li X, Li Y, Lei M, Tian J, Yang Z, Kuang S BMC Med Genet. 2020; 21(1):224.

PMID: 33198675 PMC: 7670786. DOI: 10.1186/s12881-020-01163-2.

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