title: A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.
abstract: The authors describe a Korean family with X-linked recessive Charcot-Marie-Tooth disease (CMT) having deafness and optic neuropathy. An X chromosome-wide linkage analysis identified a 15.2-cM candidate region flanked by DXS990 and DXS8067 on Xq21.32-q24 with the maximum lod score at DXS8077 (3.62, theta = 0.00). This locus does not overlap previously identified four loci for X-linked CMT, and the authors propose it as CMTX5.
authors.affiliation: Department of Laboratory Medicine, Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: H-J
authors.initials: HJ
authors.lastname: Kim
authors.forename: S H
authors.initials: SH
authors.lastname: Hong
authors.forename: C-S
authors.initials: CS
authors.lastname: Ki
authors.forename: B-J
authors.initials: BJ
authors.lastname: Kim
authors.forename: J-S
authors.initials: JS
authors.lastname: Shim
authors.forename: S-H
authors.initials: SH
authors.lastname: Cho
authors.forename: J-H
authors.initials: JH
authors.lastname: Park
authors.forename: J-W
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D002675:Child, Preschool; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D007723:Korea; D008297:Male; D008875:Middle Aged; D009901:Optic Nerve Diseases / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D014786:Vision Disorders / Q000235:genetics / Q000503:physiopathology