RT Journal Article
T1 Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
A1 Sivera, Rafael
A1 Frasquet, Marina
A1 Lupo, Vincenzo
A1 García-Sobrino, Tania
A1 Blanco-Arias, Patricia
A1 Pardo, Julio
A1 Fernández-Torrón, Roberto
A1 de Munain, Adolfo López
A1 Márquez-Infante, Celedonio
A1 Villarreal, Liliana
A1 Carbonell, Pilar
A1 Rojas-García, Ricard
A1 Segovia, Sonia
A1 Illa, Isabel
A1 Frongia, Anna Lia
A1 Nascimento, Andrés
A1 Ortez, Carlos
A1 García-Romero, María Del Mar
A1 Pascual, Samuel Ignacio
A1 Pelayo-Negro, Ana Lara
A1 Berciano, José
A1 Guerrero, Antonio
A1 Casasnovas, Carlos
A1 Camacho, Ana
A1 Esteban, Jesús
A1 Chumillas, María José
A1 Barreiro, Marisa
A1 Díaz, Carmen
A1 Palau, Francesc
A1 Vílchez, Juan Jesús
A1 Espinós, Carmen
A1 Sevilla, Teresa
AB 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.
YR 2017
FD 2017-07-27
LK http://hdl.handle.net/10668/11448
UL http://hdl.handle.net/10668/11448
LA en
DS RISalud
RD Apr 10, 2025