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Lookup NU author(s): Roberto Fernandez-Torron
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2017 The Author(s). Mutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of Spain or other Mediterranean countries. This cross-sectional retrospective multicenter study analyzed the clinical and genetic characteristics of patients with GDAP1 mutations across Spain. 99 patients were identified, which were distributed across most of Spain, but especially in the Northwest and Mediterranean regions. The most common genotypes were p.R120W (in 81% of patients with autosomal dominant inheritance) and p.Q163X (in 73% of autosomal recessive patients). Patients with recessively inherited mutations had a more severe phenotype, and certain clinical features, like dysphonia or respiratory dysfunction, were exclusively detected in this group. Dominantly inherited mutations had prominent clinical variability regarding severity, including 29% of patients who were asymptomatic. There were minor clinical differences between patients harboring specific mutations but not when grouped according to localization or type of mutation. This is the largest clinical series to date of patients with GDAP1 mutations, and it contributes to define the genetic distribution and genotype-phenotype correlation in this rare form of CMT.
Author(s): Sivera R, Frasquet M, Lupo V, Garcia-Sobrino T, Blanco-Arias P, Pardo J, Fernandez-Torron R, De Munain AL, Marquez-Infante C, Villarreal L, Carbonell P, Rojas-Garcia R, Segovia S, Illa I, Frongia AL, Nascimento A, Ortez C, Garcia-Romero MDM, Pascual SI, Pelayo-Negro AL, Berciano J, Guerrero A, Casasnovas C, Camacho A, Esteban J, Chumillas MJ, Barreiro M, DIaz C, Palau F, Vilchez JJ, Espinos C, Sevilla T
Publication type: Article
Publication status: Published
Journal: Scientific Reports
Online publication date: 27/07/2017
Acceptance date: 19/06/2017
Date deposited: 07/08/2017
ISSN (print): 2045-2322
Publisher: Nature Publishing Group
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