期刊
BRAIN
卷 142, 期 -, 页码 2605-2616出版社
OXFORD UNIV PRESS
DOI: 10.1093/brain/awz216
关键词
distal hereditary motor neuropathies; next-generation sequencing; nonsense mutations; alpha-II-spectrin
资金
- Association Belge contre les Maladies Neuromusculaire (ABMM) - Aide a la Recherche ASBL [2017-2018/05]
- EU [2012-305121]
- Research Fund - Flanders (FWO) [1805016N]
Distal hereditary motor neuropathies are a rare subgroup of inherited peripheral neuropathies hallmarked by a length-dependent axonal degeneration of lower motor neurons without significant involvement of sensory neurons. We identified patients with heterozygous nonsense mutations in the alpha II-spectrin gene, SPTAN1, in three separate dominant hereditary motor neuropathy families via next-generation sequencing. Variable penetrance was noted for these mutations in two of three families, and phenotype severity differs greatly between patients. The mutant mRNA containing nonsense mutations is broken down by nonsense-mediated decay and leads to reduced protein levels in patient cells. Previously, dominant-negative alpha II-spectrin gene mutations were described as causal in a spectrum of epilepsy phenotypes.
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