A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.
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.
Kim
H-J
HJ
Department of Laboratory Medicine, Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Hong
S H
SH
Ki
C-S
CS
Kim
B-J
BJ
Shim
J-S
JS
Cho
S-H
SH
Park
J-H
JH
Kim
J-W
JW
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