Confinement of PGL, an imprinted gene causing hereditary paragangliomas, to a 2-cM interval on 11q22-q23 and exclusion of DRD2 and NCAM as candidate genes

E M van Schothorst; J C Jansen; A F Bardoel; A G van der Mey; M J James; H Sobol; J Weissenbach; G J van Ommen; C J Cornelisse; P Devilee

doi:10.1159/000472213

Confinement of PGL, an imprinted gene causing hereditary paragangliomas, to a 2-cM interval on 11q22-q23 and exclusion of DRD2 and NCAM as candidate genes

Eur J Hum Genet. 1996;4(5):267-73. doi: 10.1159/000472213.

Authors

E M van Schothorst¹, J C Jansen, A F Bardoel, A G van der Mey, M J James, H Sobol, J Weissenbach, G J van Ommen, C J Cornelisse, P Devilee

Affiliation

¹ MGC Department of Human Genetics, Leiden University, The Netherlands.

PMID: 8946172
DOI: 10.1159/000472213

Abstract

Paragangliomas of the head and neck region, also known as glomus tumours, are mostly benign tumours of neuro-ectodermal origin. We mapped the familial form by linkage analysis in 6 families to chromosome region 11q22-q23, between the markers STMY and CD3D which currently span a 16-cM interval. Here, we performed detailed haplotype analysis of this region in a single Dutch multibranch 7-generation family. A region of 2 cM between the markers D11S938/D11S4122 and D11S1885 was shared between all patients of whom disease haplotypes could be reconstructed. In support of this localization, a recombination observed in a small French family with 2 affected nieces places the PGL gene proximal to marker D11S908, genetically coincident with D11S1885.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Mapping
Chromosomes, Human, Pair 11*
Genetic Heterogeneity
Genetic Linkage
Genomic Imprinting*
Haplotypes
Head and Neck Neoplasms / genetics*
Humans
Neural Cell Adhesion Molecules / genetics*
Paraganglioma / genetics*

Substances

Neural Cell Adhesion Molecules