Localization of a gene responsible for autosomal recessive
demyelinating neuropathy with focally folded myelin sheaths to
chromosome 11q23 by homozygosity mapping and haplotype
sharing
Alessandra Bolino , Valeria Brancolini , Francesco Bono , Amalia Bruni , Antonio
Gambardella , Giovanni Romeo , Aldo Quattrone and Marcella Devoto
Human Molecular Genetics, 5(7), 1051-1054 (July 1996)
Abstract
Hereditary motor and sensory neuropathy (HMSN) with focally folded myelin sheaths, or
Charcot-Marie-Tooth type 4B (CMT4B), is a distinct clinical entity belonging to the
heterogeneous group of autosomal recessive demyelinating neuropathies. We first described
a large pedigree with CMT4B, which showed a high consanguinity level and an autosomal
recessive pattern of inheritance. Through conventional linkage analysis, we excluded linkage
of the locus segregating in this pedigree to any of the known genes responsible for other
HMSNs. Using homozygosity mapping and haplotype sharing analysis, we were able to
localize the disease gene in a 4 cM interval on chromosome 11q23, between the D11S1332
and D11S917 loci. On the basis of the clinical characteristics of the disease, we propose that
this locus corresponds to the CMT4B gene.
3724 words, 1 figures, 1 tables, 18 references, 26724 bytes.
