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, Marcella Devoto

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1051-1054
Number of pages4
JournalHuman Molecular Genetics
Volume5
Issue number7
DOIs
Publication statusPublished - Jul 1996

ASJC Scopus subject areas

  • Genetics

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