Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a)

J E Hoogendijk, E A Janssen, A A Gabreëls-Festen, G W Hensels, E M Joosten, F J Gabreëls, I Zorn, L J Valentijn, F Baas, B W Ongerboer de Visser

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

The most frequently found mutation in autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) is a large duplication on chromosome 17p11.2 containing probes VAW409R3, VAW412R3, and EW401. We investigated a family with severe features of HMSN I, and demonstrated the absence of this duplication by a quantitative analysis of the hybridization signals of VAW409R3 and VAW412R3. Linkage analysis, however, revealed linkage with probe VAW409R3a (lod score, 3.22), which demonstrates the existence of allelic heterogeneity within the HMSN Ia locus. These findings have implications for clinical practice and for investigating the identity of the HMSN Ia gene.

Original languageEnglish
Pages (from-to)1010-5
Number of pages6
JournalNeurology
Volume43
Issue number5
Publication statusPublished - 1993

Keywords

  • Adult
  • Alleles
  • Blotting, Southern
  • Charcot-Marie-Tooth Disease
  • Chromosome Mapping
  • Chromosomes, Human, Pair 17
  • DNA
  • Female
  • Genetic Markers
  • Humans
  • Male
  • Multigene Family
  • Mutation
  • Pedigree
  • Restriction Mapping
  • Case Reports
  • Journal Article
  • Research Support, Non-U.S. Gov't

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