A gene for cleidocranial dysplasia maps to the short arm of chromosome 6

Academic Article


  • Cleidocranial dysplasia (CCD) is an autosomal dominant generalized bone dysplasia characterized by mild-to-moderate short stature, clavicular aplasia or hypoplasia, supernumerary and ectopic teeth, delayed eruption of secondary teeth, a characteristic craniofacial appearance, and a variety of other skeletal anomalies. We have performed linkage studies in five families with CCD, with 24 affected and 20 unaffected individuals, using microsatellite markers spanning two candidate regions on chromosomes 8q and 6. The strongest support for linkage was with chromosome 6p microsatellite marker D68282 with a two-point lod score of 4.84 (Θ = .03). Furthermore, the multipoint lod score was 5.70 in the interval between D68282 and D68291. These data show that the gene for autosomal dominant CCD is located within a 19-cM interval on the short arm of chromosome 6, between D68282 and D68291.
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    Author List

  • Feldman GJ; Robin NH; Brueton LA; Robertson E; Thompson EM; Siegel- Bartelt J; Gasser DL; Bailey LC; Zackai EH; Muenke M
  • Start Page

  • 938
  • End Page

  • 943
  • Volume

  • 56
  • Issue

  • 4