A novel RAB7 mutation associated with ulcero-mutilating neuropathy

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Abstract from Ann Neurol. 2004 Sep 28;56(4):586-590.

A novel RAB7 mutation associated with ulcero-mutilating neuropathy.

Houlden H, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg

L.

University Department of Clinical Neurosciences, Royal Free Campus,

Royal Free and University College Medical School, University College

London, United Kingdom.

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.