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.
abstract: 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.
authors.forename: Alejandro
authors.initials: A
authors.lastname: Leal
authors.forename: Corinna
authors.initials: C
authors.lastname: Berghoff
authors.forename: Martin
authors.initials: M
authors.lastname: Berghoff
authors.forename: Melissa
authors.initials: M
authors.lastname: Rojas-Araya
authors.forename: Ortiz
authors.initials: O
authors.lastname: Carolina
authors.forename: Dieter
authors.initials: D
authors.lastname: Heuss
authors.forename: Gerardo
authors.initials: G
authors.lastname: Del Valle
authors.forename: Bernd
authors.initials: B
authors.lastname: Rautenstrauss
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002607:Charcot-Marie-Tooth Disease / Q000208:ethnology / Q000235:genetics*; D003364:Costa Rica; D005260:Female; D018703:Founder Effect; D006239:Haplotypes; D006319:Hearing Loss, Sensorineural / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018993:Myelin P0 Protein / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D055815:Young Adult
chemical_list: D018993:Myelin P0 Protein