Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31

George Feldman, Ming Li, Shelden Martin, Margrit Urbanek, J. Andoni Urtizberea, Michel Fardeau, Martine LeMerrer, J. Michael Connor, James Triffitt, Roger Smith, Maximilian Muenke, Frederick S. Kaplan, Eileen M. Shore*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

83 Scopus citations

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a severely disabling, autosomal-dominant disorder of connective tissue and is characterized by postnatal progressive heterotopic ossification of muscle, tendon, ligament, and fascia and by congenital malformation of the great toes. To identify the chromosomal location of the FOP gene, we conducted a genomewide linkage analysis, using four affected families with a total of 14 informative meioses. Male-to-male transmission of the FOP phenotype excluded X-linked inheritance. Highly polymorphic microsatellite markers covering all human autosomes were amplified by use of PCR. The FOP phenotype is linked to markers located in the 4q27-31 region (LOD score 3.10 at recombination fraction 0). Crossover events localize the putative FOP gene within a 36-cM interval bordered proximally by D4S1625 and distally by D4S2417. This interval contains at least one gene involved in the bone morphogenetic protein-signaling pathway.

Original languageEnglish (US)
Pages (from-to)128-135
Number of pages8
JournalAmerican journal of human genetics
Volume66
Issue number1
DOIs
StatePublished - 2000

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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