Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1. Issue 10 (1st October 2002)

• Record Type: Journal Article
• Authors: Thauvin-Robinet, C; El Ghouzzi, V; Chemaitilly, W; Dagoneau, N; Boute, O; Viot, G; Mégarbané, A; Sefiani, A; Munnich, A; Le Merrer, M; Cormier-Daire, V
• Is Part Of: Journal of medical genetics. Volume 39:Issue 10(2002)
• Page Start: 714
• Page End: 717
• Publication Date: 2002-10-01
• Subjects: Dyggve-Melchior-Clausen disease -- homozygosity mapping -- chromosome 18q21.1; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.39.10.714
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Dyggve-Melchior-Clausen syndrome (DMC) is an autosomal recessive condition characterised by short trunk dwarfism, scoliosis, microcephaly, coarse facies, mental retardation, and characteristic radiological features. X rays show platyspondyly with double vertebral hump, epiphyseal dysplasia, irregular metaphyses, and a characteristic lacy appearance of the iliac crests. Electron microscopy of chondrocytes have shown widened cisternae of rough endoplasmic reticulum and biochemical analyses have shown accumulation of glucosaminoglycan in cartilage, but the pathogenesis of DMC remains unexplained. Here, we report on the homozygosity mapping of a DMC gene to chromosome 18q21.1 in seven inbred families (Zmax=9.65 at θ=0 at locus D18S1126) in the genetic interval (1.8 cM) defined by loci D18S455 and D18S363. Despite the various geographical origins of the families reported here (Morocco, Tunisia, Portugal, and Lebanon), this condition was genetically homogeneous in our series. Continuing studies will hopefully lead to the identification of the disease causing gene.