A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24

H-J Kim; S H Hong; C-S Ki; B-J Kim; J-S Shim; S-H Cho; J-H Park; J-W Kim

doi:10.1212/01.WNL.0000163768.58168.3A

A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24

Neurology. 2005 Jun 14;64(11):1964-7. doi: 10.1212/01.WNL.0000163768.58168.3A.

Authors

H-J Kim¹, S H Hong, C-S Ki, B-J Kim, J-S Shim, S-H Cho, J-H Park, J-W Kim

Affiliation

¹ Department of Laboratory Medicine, Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

PMID: 15955956
DOI: 10.1212/01.WNL.0000163768.58168.3A

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Age of Onset
Charcot-Marie-Tooth Disease / complications
Charcot-Marie-Tooth Disease / genetics*
Charcot-Marie-Tooth Disease / physiopathology
Child, Preschool
Chromosome Mapping*
Chromosomes, Human, X / genetics*
DNA Mutational Analysis
Deafness / genetics*
Deafness / physiopathology
Female
Genetic Diseases, X-Linked / complications
Genetic Diseases, X-Linked / genetics*
Genetic Diseases, X-Linked / physiopathology
Genetic Predisposition to Disease / genetics
Genotype
Humans
Korea
Male
Middle Aged
Optic Nerve Diseases / genetics*
Optic Nerve Diseases / physiopathology
Phenotype
Vision Disorders / genetics
Vision Disorders / physiopathology