A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype

The p.Thr124Met mutation in the myelin protein zero (MPZ) causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness. It was observed in several families around the world originating e. g. from Germany, Belgium, Japan, Italy...

Descripción completa

Detalles Bibliográficos
Autores principales:	Leal, Alejandro, Berghoff, Corinna, Berghoff, Martin, Rojas-Araya, Melissa, Ortiz, Carolina, Heuss, Dieter, Rautenstrauss, Bernd
Formato:	Online
Idioma:	eng
Publicado:	Universidad de Costa Rica 2014
Acceso en línea:	https://revistas.ucr.ac.cr/index.php/rbt/article/view/13473

id	RBT13473
record_format	ojs
spelling	RBT134732022-06-09T17:30:45Z Una familia costarricense afectada por la enfermedad de Charcot-Marie-Tooth, debido a la mutación p.thr124Met en la proteína mielina cero (MPZ) compartida con el haplotipo belga A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype Leal, Alejandro Berghoff, Corinna Berghoff, Martin Rojas-Araya, Melissa Ortiz, Carolina Heuss, Dieter Rautenstrauss, Bernd Charcot-Marie-Tooth neuropatía periférica Proteína Mielina Cero mutación Costa Rica. Charcot-Marie-Tooth peripheral neuropathy Myelin protein zero mutation Costa Rica La mutación p.thr124Met en la proteína mielina cero (MPZ) causa la enfermedad de Charcot-Marie-Tooth tipo 2J, una neuropatía periférica con síntomas adicionales como alteraciones pupilares y sordera. Se ha observado en varias familias alrededor del mundo, originarias de Alemania, Bélgica, Japón, Italia y Norteamérica, entre otras. Aquí reportamos a pacientes centroamericanos provenientes de Costa Rica que acarrean esta mutación. Se realizaron análisis clínico, electrofisiológico y molecular de pacientes y controles, incluyendo secuenciación del gen y de marcadores ligados a éste. Estos pacientes comparten casi por completo el haplotipo con dos pacientes belgas no emparentados. Como resultado del análisis de los haplotipos, basado en diez marcadores (siete SNPs, dos microsatélites y un elemento poli-A intrónico), se sugiere que se ha dado un efecto fundador en la migración de este alelo. The p.Thr124Met mutation in the myelin protein zero (MPZ) causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness. It was observed in several families around the world originating e. g. from Germany, Belgium, Japan, Italy and North America. Here we report Central American patients originating from a family in Costa Rica carrying this mutation. Clinical, electrophysiological and molecular analysis of patients and controls were performed, including gene and linked markers´ sequencing. Carriers share almost the entire haplotype with two non related Belgian CMT patients. As a result of the haplotype analysis, based on ten markers (seven SNPs, two microsatellites and an intronic polyA stretch), the founder effect hypothesis for this allele migration is suggestive. Universidad de Costa Rica 2014-12-01 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion application/pdf text/html https://revistas.ucr.ac.cr/index.php/rbt/article/view/13473 10.15517/rbt.v62i4.13473 Revista de Biología Tropical; Vol. 62 No. 4 (2014): Volume 62 – Regular number 4 – December 2014; 1285–1293 Revista de Biología Tropical; Vol. 62 Núm. 4 (2014): Volumen 62 – Número regular 4 – Diciembre 2014; 1285–1293 Revista Biología Tropical; Vol. 62 N.º 4 (2014): Volume 62 – Regular number 4 – December 2014; 1285–1293 2215-2075 0034-7744 10.15517/rbt.v62i4 eng https://revistas.ucr.ac.cr/index.php/rbt/article/view/13473/15459 https://revistas.ucr.ac.cr/index.php/rbt/article/view/13473/15460 Copyright (c) 2014 Revista de Biología Tropical http://creativecommons.org/licenses/by/4.0
institution	Universidad de Costa Rica
collection	Revista de Biología Tropical
language	eng
format	Online
author	Leal, Alejandro Berghoff, Corinna Berghoff, Martin Rojas-Araya, Melissa Ortiz, Carolina Heuss, Dieter Rautenstrauss, Bernd
spellingShingle	Leal, Alejandro Berghoff, Corinna Berghoff, Martin Rojas-Araya, Melissa Ortiz, Carolina Heuss, Dieter Rautenstrauss, Bernd A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype
author_facet	Leal, Alejandro Berghoff, Corinna Berghoff, Martin Rojas-Araya, Melissa Ortiz, Carolina Heuss, Dieter Rautenstrauss, Bernd
author_sort	Leal, Alejandro
description	The p.Thr124Met mutation in the myelin protein zero (MPZ) causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness. It was observed in several families around the world originating e. g. from Germany, Belgium, Japan, Italy and North America. Here we report Central American patients originating from a family in Costa Rica carrying this mutation. Clinical, electrophysiological and molecular analysis of patients and controls were performed, including gene and linked markers´ sequencing. Carriers share almost the entire haplotype with two non related Belgian CMT patients. As a result of the haplotype analysis, based on ten markers (seven SNPs, two microsatellites and an intronic polyA stretch), the founder effect hypothesis for this allele migration is suggestive.
title	A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype
title_short	A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype
title_full	A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype
title_fullStr	A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype
title_full_unstemmed	A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype
title_sort	costa rican family affected with charcot-marie-tooth disease due to the myelin protein zero (mpz) p.thr124met mutation shares the belgian haplotype
title_alt	Una familia costarricense afectada por la enfermedad de Charcot-Marie-Tooth, debido a la mutación p.thr124Met en la proteína mielina cero (MPZ) compartida con el haplotipo belga
publisher	Universidad de Costa Rica
publishDate	2014
url	https://revistas.ucr.ac.cr/index.php/rbt/article/view/13473
work_keys_str_mv	AT lealalejandro unafamiliacostarricenseafectadaporlaenfermedaddecharcotmarietoothdebidoalamutacionpthr124metenlaproteinamielinacerompzcompartidaconelhaplotipobelga AT berghoffcorinna unafamiliacostarricenseafectadaporlaenfermedaddecharcotmarietoothdebidoalamutacionpthr124metenlaproteinamielinacerompzcompartidaconelhaplotipobelga AT berghoffmartin unafamiliacostarricenseafectadaporlaenfermedaddecharcotmarietoothdebidoalamutacionpthr124metenlaproteinamielinacerompzcompartidaconelhaplotipobelga AT rojasarayamelissa unafamiliacostarricenseafectadaporlaenfermedaddecharcotmarietoothdebidoalamutacionpthr124metenlaproteinamielinacerompzcompartidaconelhaplotipobelga AT ortizcarolina unafamiliacostarricenseafectadaporlaenfermedaddecharcotmarietoothdebidoalamutacionpthr124metenlaproteinamielinacerompzcompartidaconelhaplotipobelga AT heussdieter unafamiliacostarricenseafectadaporlaenfermedaddecharcotmarietoothdebidoalamutacionpthr124metenlaproteinamielinacerompzcompartidaconelhaplotipobelga AT rautenstraussbernd unafamiliacostarricenseafectadaporlaenfermedaddecharcotmarietoothdebidoalamutacionpthr124metenlaproteinamielinacerompzcompartidaconelhaplotipobelga AT lealalejandro acostaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT berghoffcorinna acostaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT berghoffmartin acostaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT rojasarayamelissa acostaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT ortizcarolina acostaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT heussdieter acostaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT rautenstraussbernd acostaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype
_version_	1810114638412513280

A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype

Ejemplares similares