The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone receptor gene

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Item Type:	Article
Title:	The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone receptor gene
Creators Name:	Nuernberg, P., Tinschert, S., Mrug, M., Hampe, J., Mueller, C.R., Fuhrmann, E., Braun, H.S. and Reis, A.
Abstract:	Craniometaphyseal dysplasia (CMD) is an osteochondrodysplasia of unknown etiology characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that finally may result in hearing loss and facial palsy. We have analyzed a large German kindred with autosomal dominant (AD) CMD and found tight linkage between the disorder and microsatellite markers on chromosome 5p (maximum two-point LOD score 4.82; theta = 0). Our results clearly establish the existence of a locus for AD CMD on central chromosome 5p (5p15.2-p14.1). This region overlaps with the mapping interval of the growth hormone-receptor (GHR) gene (5p14-p12), which is known to be involved in the mitogenic activation of osteoblasts. Therefore, we tested the GHR gene as a candidate gene. However, recombination events between the CMD locus and the GHR gene identified in two members of this family clearly exclude this candidate.
Keywords:	Chromosome Mapping, Craniofacial Abnormalities, Dominant Genes, Facial Bones, Genetic Linkage, Genetic Markers, Germany, Hyperostosis, Lod Score, Microsatellite Repeats, Pair 5 Human Chromosomes, Pedigree, Sclerosis, Skull, Somatotropin Receptors
Source:	American Journal of Human Genetics
ISSN:	0002-9297
Publisher:	University of Chicago Press
Volume:	61
Number:	4
Page Range:	918-923
Date:	October 1997
Official Publication:	https://doi.org/10.1086/514880
PubMed:	View item in PubMed

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