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. 2002 Oct;71(4):947-51.
doi: 10.1086/342669. Epub 2002 Aug 2.

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

Nadia Ehtesham  1 , Rita M Cantor, Lily M King, Kent Reinker, Berkley R Powell, Alan Shanske, Sheila Unger, David L Rimoin, Daniel H Cohn
Affiliations

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

Nadia Ehtesham et al. Am J Hum Genet. 2002 Oct.

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.

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Figures

Figure 1
Figure 1
Pedigrees of families from Guam with SMC dysplasia. Blackened symbols indicate affected individuals, and vertical bars indicate the haplotypes from the linked region on chromosome 18q that segregate with the disease. A, Family SMC1. The recombination interval was defined by recombination events observed for II-5 and II-6. Shaded areas indicate region of autozygosity. B, Family SMC2. The maternal disease haplotype is identical in the two families between markers D18S486 and D18S474.
Figure 2
Figure 2
Pedigrees of families with Dyggve-Melchior-Clausen syndrome (DMC). A, Family DMC1, of Pakistani origin. B, Family DMC2, of Dominican origin. C, Family DMC3. Blackened symbols indicate affected individuals, and vertical bars indicate the haplotypes from the linked region on chromosome 18q that segregate with the disease.
See this image and copyright information in PMC

References

Electronic-Database Information

    1. Center for Medical Genetics, Marshfield Medical Research Foundation, http://research.marshfieldclinic.org/genetics (for genetic maps)
    1. National Center for Biotechnology Information, http://www.ncbi.nlm.nih.gov/genome/guide/human/(for physical maps and marker information)
    1. University of California at Santa Cruz, http://genome.ucsc.edu/ (for physical maps and marker information)
    1. Stanford Human Genome Center, http://www.shgc-stanford.edu/ (for STS information)
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/

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