title: A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.
abstract: Charcot-Marie-Tooth disease with deafness is a clinically distinct entity and is associated with mutations or deletions in several genes including PMP22 gene. Here, we report a large family showing characteristic phenotypes of Charcot-Marie-Tooth type 1A along with deafness in an autosomal dominant fashion. We detected a sequence variation (c.68C>G) co-segregating with the disease phenotype and leading to a T23R missense mutation in PMP22.
authors.affiliation: Department of Neurology, Ajou University School of Medicine, Suwon, South Korea.
authors.forename: In Soo
authors.initials: IS
authors.lastname: Joo
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Sung Yeol
authors.initials: SY
authors.lastname: Joo
authors.forename: Kyoon
authors.initials: K
authors.lastname: Huh
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000328:Adult; D001120:Arginine / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005192:Family Health; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D013912:Threonine / Q000235:genetics
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human; D013912:Threonine; D001120:Arginine