Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14

Meriel McEntagart, Nadine Norton, Hywel Williams, M. Dawn Teare, Melanie Dunstan, Philip Baker, Henry Houlden, Mary Reilly, Nick Wood, Peter S. Harper, P. Andrew Futreal, Nigel Williams, Nazneen Rahman

Research output: Contribution to journalArticlepeer-review

60 Scopus citations

Abstract

Distal hereditary motor neuronopathy type VII (dHMN-VII) is an autosomal dominant disorder characterized by distal muscular atrophy and vocal cord paralysis. We performed a genomewide linkage search in a large Welsh pedigree with dHMN-VII and established linkage to chromosome 2q14. Analyses of a second family with dHMN-VII confirmed the location of the gene and provided evidence for a founder mutation segregating in both pedigrees. The maximum three-point LOD score in the combined pedigree was 7.49 at D2S274. Expansion of a polyalanine tract in Engrailed-1, a transcription factor strongly expressed in the spinal cord, was excluded as the cause of dHMN-VII.

Original languageEnglish (US)
Pages (from-to)1270-1276
Number of pages7
JournalAmerican journal of human genetics
Volume68
Issue number5
DOIs
StatePublished - 2001

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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