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Title: | Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain |
Author: | Sivera, Rafael Frasquet, Marina Lupo, Vincenzo García-Sobrino, Tania Blanco-Arias, Patricia Pardo, Julio Fernández-Torrón, Roberto López de Munain, Adolfo Márquez Infante, Celedonio Villarreal, Liliana Carbonell, Pilar Rojas-Garcia, Ricard Segovia, Sonia Illa Sendra, Isabel Frongia, Anna Lia Nascimento, Andrés Ortez, Carlos Ignacio García-Romero, Mar Pascual-Pascua, Samuel Ignacio Pelayo-Negro, Ana Lara Berciano, José Guerrero Sola, Antonio Casasnovas Pons, Carlos Camacho, Ana Esteban, Jesús Chumillas, María José Barreiro, Marisa Díaz, Carmen Palau Martínez, Francesc Vílchez, Juan Jesús Espinós, Carmen Sevilla, Teresa |
Keywords: | Imatges per ressonància magnètica Patologia Fenotip Mutació (Biologia) Amiotròfia neural progressiva de Charcot-Marie-Tooth Espanya Magnetic resonance imaging Pathology Phenotype Mutation (Biology) Charcot-Marie-Tooth disease Spain |
Issue Date: | 27-Jul-2017 |
Publisher: | Nature Publishing Group |
Abstract: | 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. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/s41598-017-06894-6 |
It is part of: | Scientific Reports, 2017, vol. 7, p. 6677 |
URI: | http://hdl.handle.net/2445/128558 |
Related resource: | https://doi.org/10.1038/s41598-017-06894-6 |
ISSN: | 2045-2322 |
Appears in Collections: | Articles publicats en revistes (Ciències Clíniques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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