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REPORT of a novel mutation in the PMP22 gene causing an axonal neuropathy
Author(s) -
Gess Burkhard,
Jeibmann Astrid,
Schirmacher Anja,
Kleffner Ilka,
Schilling Matthias,
Young Peter
Publication year - 2011
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21973
Subject(s) - peripheral myelin protein 22 , point mutation , mutation , peripheral neuropathy , genetics , medicine , phenotype , myelin , allele , gene duplication , gene , hereditary motor and sensory neuropathy , pathology , biology , endocrinology , central nervous system , diabetes mellitus
Point mutations in the peripheral myelin protein 22 ( PMP22 ) gene rarely cause the hereditary neuropathies Charcot–Marie–Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), both of which show a demyelinating phenotype. Methods: In this study we characterized a family with an axonal neuropathy. Results: Three family members carried a heterozygous point mutation of the PMP22 gene, resulting in amino acid substitution R159C. Screening of 185 healthy controls did not reveal the R159C allele in any case. Discussion: The novel R159C mutation represents a very rare case of a dominant PMP22 mutation causing an axonal neuropathy. Muscle Nerve, 2011