Bone dysplasias in man: Molecular insights

Clair A. Francomano, Iain McIntosh, Douglas J. Wilkin

Research output: Contribution to journalArticlepeer-review

32 Scopus citations


The recent explosion in the number of identified genes involved in the human skeletal dysplasias has dramatically advanced this particular field. While linkage efforts are mapping hereditary disorders of the skeleton at an ever accelerating pace, progress in the Human Genome Project is providing tools for rapid gene discovery after the map location is known. Emerging themes in the molecular analysis of the skeletal dysplasias include the identification of allelic series of disorders and the existence of mutational and genetic heterogeneity in many of these conditions. Allelic series include those conditions caused by mutations in the genes encoding type II collagen (COL2A1), cartilage oligomeric matrix protein (COMP), fibroblast growth factor receptor 3 (FGFR3) and the diastrophic dysplasia sulfate transporter (DTDST). The recognition of these phenomena has initiated the analysis of the relationship between disease phenotype and gene.

Original languageEnglish (US)
Pages (from-to)301-308
Number of pages8
JournalCurrent Opinion in Genetics and Development
Issue number3
StatePublished - Jun 1996
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Developmental Biology


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