A novel RAB7 mutation associated with ulcero-mutilating neuropathy.
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Houlden H, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L
A novel RAB7 mutation associated with ulcero-mutilating neuropathy.
Ann Neurol. 2004 Oct;56(4):586-90.
- PubMed ID
- 15455439 [ View in PubMed]
- Abstract
There are two known autosomal dominant genes for the hereditary ulcero-mutilating neuropathies: SPTLC1 (hereditary sensory neuropathy type 1) and RAB7 (Charcot-Marie-Tooth disease type 2B). We report a family with autosomal dominant ulcero-mutilating neuropathy, developing in the teens and characterized by ulcers, amputations, sensory involvement in the feet but no motor features. Sequencing the RAB7 gene showed a novel heterozygous A to C mutation, changing asparagine to threonine at codon 161. The mutation is situated adjacent to a previously identified valine to methionine mutation at codon 162, implying a hotspot for mutations in the highly conserved C terminus of RAB7.