Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.

Details

Serval ID
serval:BIB_131F01B2101D
Type
Article: article from journal or magazin.
Collection
Publications
Title
Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.
Journal
American Journal of Human Genetics
Author(s)
Ehtesham N., Cantor R.M., King L.M., Reinker K., Powell B.R., Shanske A., Unger S., Rimoin D.L., Cohn D.H.
ISSN
0002-9297 (Print)
ISSN-L
0002-9297
Publication state
Published
Issued date
2002
Peer-reviewed
Oui
Volume
71
Number
4
Pages
947-951
Language
english
Notes
Publication types: Journal Article ; Research Support, U.S. Gov't, P.H.S. Publication Status: ppublish
Abstract
Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest. We performed a genomewide scan in a consanguineous family from Guam and found evidence of linkage to loci on chromosome 18q12. Analysis of a second, smaller family was also consistent with linkage to this region, producing a maximum combined two-point LOD score of 3.04 at a recombination fraction of 0 for the marker at locus D18S450. A 10.7-cM region containing the disease gene was defined by recombination events in two affected individuals in the larger family. Furthermore, all affected children in the larger family were homozygous for a subset of marker loci within this region, defining a 1.5-cM interval likely to contain the defective gene. Analysis of three small, unrelated families with Dyggve-Melchior-Clausen syndrome, a radiographically identical disorder with the additional clinical finding of mental retardation, provided evidence of linkage to the same region, a result consistent with the hypothesis that the two disorders are allelic.
Keywords
Alleles, Chromosome Mapping, Chromosomes, Human, Pair 18, Female, Humans, Male, Mutation, Osteochondrodysplasias/genetics, Pedigree
Pubmed
Web of science
Open Access
Yes
Create date
20/06/2015 12:03
Last modification date
20/08/2019 12:41
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