Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome

Am J Med Genet. 1994 Aug 15;52(2):174-7. doi: 10.1002/ajmg.1320520210.


The Treacher Collins-Franceschetti syndrome (TCOF) or mandibulofacial dysostosis (MFD) is an autosomal dominant disorder characterized by craniofacial abnormalities and hearing loss. A refined genetic linkage map of the TCOF locus was established in 8 independent families, using 12 microsatellite DNA markers of the distal 5q. Positive lod score values were obtained for all markers with a maximum at the D5S413 locus (Zmax = 3.79 at theta = 0%). Multipoint linkage analysis and haplotype analysis supported the location of the gene between loci D5S434 and D5S412. These results are consistent with previous linkage analyses [Dixon et al.: Am J Hum Genet 49:17-22, 1991, Am J Hum Genet 52:907-914, 1993; Jabs et al.: Genomics 11:193-198, 1991, Genomics 18:7-13, 1993] and provide further evidence of genetic homogeneity in this syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 5*
  • DNA, Satellite / genetics
  • Female
  • Genes, Dominant*
  • Genotype
  • Haplotypes / genetics
  • Humans
  • Lod Score
  • Male
  • Mandibulofacial Dysostosis / genetics*
  • Pedigree
  • Repetitive Sequences, Nucleic Acid


  • DNA, Satellite