title: Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.
abstract: Charcot-Marie-Tooth disease (CMT) is characterised by great variability of genetic subtypes. This study aimed to assess the genetic subtypes of CMT disease in the Sardinian population. Genetic screening was performed for CMT cases (CMT1, CMT2, and hereditary neuropathy with susceptibility to pressure palsies [HNPP]). A total of 1,043 subjects (119 index cases) were evaluated. In CMT1 index cases (69/119; 58%), PMP22 duplication at 17p11.2 was the most frequent genetic diagnosis (60/69; 87%), followed by mutations in the GJB1 gene (5/69; 7.2%), in the SH3TC2 gene (3/69; 4.4%) and PMP22 Gly107Val point mutation (1/69; 1.4%). The CMT2 group (24/119; 20.1%) comprised 10/24 (41.6%) patients carrying MPZ gene Ser44Phe mutation, 6/24 (25%) with mutations in MFN2 and HSPB1, and 1/24 (4.2%) in GJB1 and LRSAM1. In the HNPP group (26/119; 21.9%), the majority of patients reported the PMP22 deletion (25/26; 96.2%). Further studies are needed to comprehend the overall picture of the disease in Mediterranean area.
authors.affiliation: Multiple Sclerosis Centre, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy. lorena.lorefice@hotmail.it.
authors.forename: Lorena
authors.initials: L
authors.lastname: Lorefice
authors.affiliation: Binaghi Hospital, ASL8, Cagliari, Italy.
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Murru
authors.affiliation: Multiple Sclerosis Centre, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Coghe
authors.affiliation: Multiple Sclerosis Centre, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Fenu
authors.affiliation: Binaghi Hospital, ASL8, Cagliari, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Corongiu
authors.affiliation: Multiple Sclerosis Centre, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
authors.forename: Jessica
authors.initials: J
authors.lastname: Frau
authors.affiliation: Binaghi Hospital, ASL8, Cagliari, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Tranquilli
authors.affiliation: Institute of Neurology, AOU , Cagliari, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Tacconi
authors.affiliation: Binaghi Hospital, ASL8, Cagliari, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Vannelli
authors.affiliation: Binaghi Hospital, ASL8, Cagliari, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Marrosu
authors.affiliation: Binaghi Hospital, ASL8, Cagliari, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Mamusa
authors.affiliation: Multiple Sclerosis Centre, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Cocco
authors.affiliation: Multiple Sclerosis Centre, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Marrosu
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D017630:Connexins / Q000235:genetics; D005190:Family; D020558:GTP Phosphohydrolases / Q000235:genetics; D006801:Humans; D007558:Italy; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation; D018993:Myelin P0 Protein / Q000235:genetics; D009185:Myelin Proteins / Q000235:genetics; D044465:White People; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D020558:GTP Phosphohydrolases; D024101:Mitochondrial Proteins; D018993:Myelin P0 Protein; D009185:Myelin Proteins; D000097002:Gap Junction beta-1 Protein; C560547:MPZ protein, human; C073687:PMP22 protein, human; C470018:MFN2 protein, human
keywords: Charcot–Marie–Tooth disease; Epidemiology; Genetic subtypes; Hereditary neuropathy with susceptibility to pressure palsies; Mediterranean area; Sardinian population