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Published on: April 4, 2018
CMT4D (NDRG1 mutation): genotype-phenotype correlations
Emilie Ricard1, Stéphane Mathis, Corinne Magdelaine
1Service et Laboratoire de Neurologie, Centre de Référence Neuropathies Périphériques Rares, CHU Limoges, Limoges, France.
Abstract:
Charcot-Marie-Tooth (CMT) disease is a heterogeneous condition with a large number of clinical, electrophysiological and pathological phenotypes. More than 40 genes are involved. We report a child of gypsy origin with an autosomal recessive demyelinating phenotype. Clinical data, familial history, and electrophysiological studies were in favor of a CMT4 sub-type. The characteristic N-Myc downstream-regulated gene 1 (NDRG1) mutation responsible for this CMT4D phenotype was confirmed: p.R148X. The exact molecular function of the NDRG1 protein has yet to be elucidated.
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