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

McEntagart, M., Norton, N., Williams, H., Teare, M. D., Dunstan, Melanie ORCID: https://orcid.org/0000-0003-3817-2142, Baker, P., Houlden, H., Reilly, M., Wood, N., Harper, P. S., Futreal, P. A., Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931 and Rahman, N. 2001. Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. American Journal of Human Genetics 68 (5) , pp. 1270-1276. 10.1086/320122

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher:	Chicago, IL : University of Chicago Press
ISSN:	0002-9297
Last Modified:	31 Oct 2022 09:23
URI:	https://orca.cardiff.ac.uk/id/eprint/80845

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