Academic Journal
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
| Title: | Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain |
|---|---|
| Authors: | Rafael Sivera, Marina Frasquet, Vincenzo Lupo, Tania García-Sobrino, Patricia Blanco-Arias, Julio Pardo, Roberto Fernández-Torrón, Adolfo López de Munain, Celedonio Márquez-Infante, Liliana Villarreal, Pilar Carbonell, Ricard Rojas-García, Sonia Segovia, Isabel Illa, Anna Lia Frongia, Andrés Nascimento, Carlos Ortez, María del Mar García-Romero, Samuel Ignacio Pascual, Ana Lara Pelayo-Negro, José Berciano, Antonio Guerrero, Carlos Casasnovas, Ana Camacho, Jesús Esteban, María José Chumillas, Marisa Barreiro, Carmen Díaz, Francesc Palau, Juan Jesús Vílchez, Carmen Espinós, Teresa Sevilla |
| Source: | Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017) |
| Publisher Information: | Nature Portfolio, 2017. |
| Publication Year: | 2017 |
| Collection: | LCC:Medicine LCC:Science |
| Subject Terms: | Medicine, Science |
| More Details: | 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. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 2045-2322 |
| Relation: | https://doaj.org/toc/2045-2322 |
| DOI: | 10.1038/s41598-017-06894-6 |
| Access URL: | https://doaj.org/article/0faa7f5c1e624b5b885d1c7b72e34039 |
| Accession Number: | edsdoj.0faa7f5c1e624b5b885d1c7b72e34039 |
| Database: | Directory of Open Access Journals |
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| ISSN: | 20452322 |
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| DOI: | 10.1038/s41598-017-06894-6 |
| Published in: | Scientific Reports |
| Language: | English |