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

doi:10.1086/320122

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

Cancer Biology

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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.

Original language	English (US)
Pages (from-to)	1270-1276
Number of pages	7
Journal	American journal of human genetics
Volume	68
Issue number	5
DOIs	https://doi.org/10.1086/320122
State	Published - 2001

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1086/320122

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@article{5c188c7950aa490ea2fc2e77f70b76a6,

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

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.",

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

note = "Funding Information: We are grateful to all the family members for their kind cooperation in this research. The authors also wish to thank Dr. Meena Upadhyaya, for providing samples, and Juliet Gayton and Gerry Toop, for carrying out the genealogy searches. This research was supported by the Muscular Dystrophy Campaign. ",

year = "2001",

doi = "10.1086/320122",

language = "English (US)",

volume = "68",

pages = "1270--1276",

journal = "American journal of human genetics",

issn = "0002-9297",

publisher = "Cell Press",

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TY - JOUR

T1 - Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14

AU - McEntagart, Meriel

AU - Norton, Nadine

AU - Williams, Hywel

AU - Teare, M. Dawn

AU - Dunstan, Melanie

AU - Baker, Philip

AU - Houlden, Henry

AU - Reilly, Mary

AU - Wood, Nick

AU - Harper, Peter S.

AU - Futreal, P. Andrew

AU - Williams, Nigel

AU - Rahman, Nazneen

N1 - Funding Information: We are grateful to all the family members for their kind cooperation in this research. The authors also wish to thank Dr. Meena Upadhyaya, for providing samples, and Juliet Gayton and Gerry Toop, for carrying out the genealogy searches. This research was supported by the Muscular Dystrophy Campaign.

PY - 2001

Y1 - 2001

N2 - 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.

AB - 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.

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M3 - Article

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AN - SCOPUS:0035007358

SN - 0002-9297

VL - 68

SP - 1270

EP - 1276

JO - American journal of human genetics

JF - American journal of human genetics

IS - 5

ER -

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

Abstract

ASJC Scopus subject areas

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