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Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.

Authors: Cohn, DH  Ehtesham, N  Krakow, D  Unger, S  Shanske, A  Reinker, K  Powell, BR  Rimoin, DL 
Citation: Cohn DH, etal., Am J Hum Genet. 2003 Feb;72(2):419-28. Epub 2002 Dec 16.
Pubmed: (View Article at PubMed) PMID:12491225
DOI: Full-text: DOI:10.1086/346176

Dyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMC) are similar, rare autosomal recessive osteochondrodysplasias. The radiographic features and cartilage histology in DMC and SMC are identical. However, patients with DMC exhibit significant developmental delay and mental retardation, the major features that distinguish the two conditions. Linkage studies localized the SMC and DMC disease genes to chromosome 18q12-21.1, providing evidence suggesting that they are allelic disorders. Sequence analysis of the coding exons of the FLJ90130 gene, a highly evolutionarily conserved gene within the recombination interval defined in the linkage study, identified mutations in SMC and DMC patients. The affected individuals in two consanguinous DMC families were homozygous for a stop codon mutation and a frameshift mutation, respectively, demonstrating that DMC represents the FLJ90130-null phenotype. The data confirm the hypothesis that SMC and DMC are allelic disorders and identify a gene necessary for normal skeletal development and brain function.


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CRRD Object Information
CRRD ID: 1598787
Created: 2006-12-19
Species: All species
Last Modified: 2006-12-19
Status: ACTIVE


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