Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35.
Dominant intermediate Charcot-Marie-Tooth (DI-CMT) neuropathy is a genetic and phenotypic variant of classical CMT, characterized by intermediate nerve conduction velocities and histological evidence of both axonal and demyelinating features. We report two unrelated families with intermediate CMT linked to a novel locus on chromosome 1p34-p35 (DI-CMTC). The combined haplotype analysis in both families localized the DI-CMTC gene within a 6.3-cM linkage interval flanked by markers D1S2787 and D1S2830. The functional and positional candidate genes, Syndecan 3 (SDC3), and lysosomal-associated multispanning membrane protein 5 (LAPTM5) were excluded for pathogenic mutations.
Jordanova
Albena
A
Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology, Antwerp, Belgium.
Thomas
Florian P
FP
Guergueltcheva
Velina
V
Tournev
Ivailo
I
Gondim
Francisco A A
FA
Ishpekova
Borjana
B
De Vriendt
Els
E
Jacobs
An
A
Litvinenko
Ivan
I
Ivanova
Neviana
N
Buzhov
Borjan
B
De Jonghe
Peter
P
Kremensky
Ivo
I
Timmerman
Vincent
V
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D010375:Pedigree