Key result
Eighteen GNE mutations, including a novel c.317T>C variant, identified in distal myopathy with rimmed vacuoles.
Why the study?
The variability of clinical and morphological presentation and the spectrum of GNE gene mutations in Chinese patients with distal myopathy with rimmed vacuoles were not well characterized.
Observational (n=53)
Yes
The study characterizes the clinical, pathological, and genetic spectrum of Distal myopathy with rimmed vacuoles in Chinese patients, identifying a novel GNE mutation.
Chinese DMRV cases exhibit phenotypic variability and expanded GNE mutation spectrum; leaves genotype-phenotype correlations open for prospective study.
OBJECTIVES: Distal myopathy with rimmed vacuoles (DMRV) is a typical autosomal recessive hereditary inclusion body myopathy, characterized by slowly progressive distal muscle weakness with relative sparing of the quadriceps. This study aimed to investigate the variability of clinical and morphological presentation and the spectrum of Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) mutations in Chinese DMRV patients. METHODS: We retrospectively reviewed the medical records of 37 patients with DMRV in PLA General Hospital from 1986 to 2011, and further conducted a review of 16 reported Chinese DMRV patients from other hospitals. We systematically analyzed the clinical, muscle morphological features and GNE gene mutation status of all DMRV patients. RESULTS: A total of 53 DMRV patients were studied. Fourteen cases had family history and other 39 cases were sporadic. Fifteen cases showed atypical pathological presentation as mononuclear cell invasion into necrotic or non-necrotic muscle fibers. Rare initial symptom, earlier age of onset and more dysmorphic presentations were shown in sporadic patients. Eighteen mutations in GNE gene were identified. c.317T>C (p.I106T) was a novel GNE gene mutation. c.1892C>T (p.A631V), c.527A>T (p.D176V) and c.1523T>C (p.L508S) were the common GNE mutations in Chinese DMRV patients. DISCUSSION: The clinical, pathological and genetic characteristics of DMRV are distinct in Chinese patients.
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Lu et al. (2011) conducted an observational in Distal myopathy with rimmed vacuoles (DMRV) (n=53). GNE gene mutations and clinical characteristics was evaluated on Clinical, muscle morphological features and GNE gene mutation status. Among 53 Chinese patients with distal myopathy with rimmed vacuoles, 18 GNE gene mutations were identified, including a novel c.317T>C mutation.
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