INTRODUCTION: 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.
INTRODUCTION: 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.
Authors: Giorgia Bergamin; Francesca Boaretto; Chiara Briani; Elena Pegoraro; Mario Cacciavillani; Andrea Martinuzzi; Maria Muglia; Andrea Vettori; Giovanni Vazza; Maria Luisa Mostacciuolo Journal: Neuromolecular Med Date: 2014-05-13 Impact factor: 3.843