GNE gene mutation analysis in 5 patients with distal myopathy with rimmed vacuoles.
- Author:
Xiang-hui LU
1
;
Chuan-qiang PU
;
Qiang SHI
;
Wen-jing LUO
;
Ke LI
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; genetics; Base Sequence; DNA Mutational Analysis; Distal Myopathies; enzymology; genetics; Female; Humans; Male; Molecular Sequence Data; Multienzyme Complexes; genetics; Mutation; genetics; Mutation, Missense; genetics; Young Adult
- From: Journal of Southern Medical University 2011;31(8):1421-1424
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate GNE gene mutations in 5 Chinese patients with distal myopathy with rimmed vacuoles (DMRV).
METHODSFive patients with typical clinical and pathological features of DMRV were studied. All the 11 coding exons and the flanking intron sequences of GNE gene were amplified by PCR and sequenced. Four family members of case 5 were also examined for GNE gene mutations.
RESULTSAll the patients were identified to have different GNE gene mutations: Cases 1-4 had complex heterozygous mutations and case 5 had homozygous mutation. Six reported mutations had been identified, including 1 nonsense mutation (p.R8X) and 5 missense mutations (p.D176V, p.I298T, p.A591T, P.A631V, and p.V696M). A novel mutation (c.317T>C, p.I106T) was identified in case 2.
CONCLUSIONThis is the first report of p.R8X, p.I298T, p.A591T and p.V696M mutations in GNE gene in Chinese population, and a novel mutation p.I106T was identified. These findings further expand the clinical and genetic spectrum of DMRV in China.
