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A novel RAB7 mutation associated with ulcero‐mutilating neuropathy
Author(s) -
Houlden Henry,
King Rosalind H. M.,
Muddle John R.,
Warner Thomas T.,
Reilly Mary M.,
Orrell Richard W.,
Ginsberg Lionel
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20281
Subject(s) - genetics , medicine , mutation , missense mutation , hereditary motor and sensory neuropathy , gene , stop codon , biology
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 . Ann Neurol 2004;56:586–590