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Novel GNE mutations in two phenotypically distinct HIBM2 patients
Conrad C Weihl1, Sara E Miller, Craig M Zaidman
1Department of Neurology and Hope Center for Neurological Disorders, Washington University School of Medicine, 660 S. Euclid Avenue, Saint Louis, MO 63110, USA. weihlc@neuro.wustl.edu
Neuromuscular Disorders : NMD
|December 7, 2010
Summary
Novel mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene cause hereditary inclusion body myopathy type 2 (HIBM2). This study reveals a broader clinical spectrum for HIBM2, including atypical presentations.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Hereditary inclusion body myopathy type 2 (HIBM2) is a rare genetic neuromuscular disorder.
- It is caused by homozygous mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene.
Observation:
- Two unrelated American patients with novel GNE mutations were studied.
- One patient presented with a typical HIBM2 disease course and muscle pathology.
- The second patient exhibited atypical features, including later onset, distal weakness, quadriceps sparing, respiratory insufficiency, and prominent muscle necrosis without rimmed vacuoles.
Findings:
- The study identified novel GNE mutations in both patients.
- The findings highlight a wider clinical and pathological spectrum for HIBM2 than previously recognized.
- Atypical presentations can occur in HIBM2, challenging typical diagnostic criteria.
Implications:
- This research expands the known phenotype of HIBM2, aiding in broader clinical recognition.
- It underscores the importance of genetic testing for GNE mutations in suspected myopathies, even with atypical features.
- Understanding the full spectrum of HIBM2 is crucial for accurate diagnosis and patient management.
