A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

Authors
Ismailov, SM Fedotov, VP Dadali, EL Polyakov, AV Van Broeckhoven, C Ivanov, VI De Jonghe, P Timmerman, V Evgrafov, OV
Citation
Sm. Ismailov et al., A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21, EUR J HUM G, 9(8), 2001, pp. 646-650
Citations number
10
Categorie Soggetti
Molecular Biology & Genetics
Journal title
EUROPEAN JOURNAL OF HUMAN GENETICS
ISSN journal
10184813 → ACNP
Volume
9
Issue
8
Year of publication
2001
Pages
646 - 650
Database
ISI
SICI code
1018-4813(200108)9:8<646:ANLFAD>2.0.ZU;2-O
Abstract
Charcot-Marie-Tooth disease (CMT) constitutes a genetically heterogeneous g roup of inherited motor and sensory peripheral neuropathies. The axonal typ e of CMT is designated CMT type 2 (CMT2). Four loci for autosomal dominant CMT2 have been reported so far. Only in CMT2E, linked to chromosome 8p21, d isease-causing mutations in the gene for neurofilament light chain (NEFL) w ere identified. In this study we report a multigenerational Russian family with autosomal dominant CMT2 and assign the locus to chromosome 7q11-q21. T he CMT2 neuropathy in this family represents a novel genetic entity designa ted CMT2F.