A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2

M Muglia, A Magariello, L Citrigno, L Passamonti, T Sprovieri, F L Conforti, R Mazzei, A Patitucci, A L Gabriele, C Ungaro, M Bellesi, A Quattrone

Research output: Contribution to journalArticle (Academic Journal)peer-review

Abstract

The distal hereditary motor neuropathy (dHMN) is a rare genetically and clinically heterogeneous disorder characterized by weakness and wasting of distal limb muscles in absence of overt sensory abnormalities. Recently, pyramidal signs have been also described in some patients with dominant or recessive dHMN, and two different loci have been identified in families affected by dHMN complicated with pyramidal dysfunction. We investigated an Italian family affected by an autosomal dominant dHMN complicated by pyramidal signs in order to map a new gene locus. The disease maps to a novel locus in a 26-cM region flanked by D4S1552 and D4S2930 on chromosome 4q34.3-35.2. Three candidate genes (SNX25, CASP3 and TUBB4Q) located in the critical region were screened for the presence of mutations by heteroduplex analysis. No mutations have been detected in the analyzed genes. In conclusion, the new private genetic locus we reported further confirms the wide heterogeneity of dHMN.

Original languageEnglish
Pages (from-to)486-91
Number of pages6
JournalClinical Genetics
Volume73
Issue number5
DOIs
Publication statusPublished - May 2008

Keywords

  • Chromosome Mapping
  • Chromosomes, Human, Pair 4/genetics
  • Female
  • Genetic Heterogeneity
  • Genetic Linkage
  • Hereditary Sensory and Motor Neuropathy/genetics
  • Humans
  • Male
  • Pedigree

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