Mapping of a further locus for X-linked craniofrontonasal syndrome

Cytogenet Genome Res. 2002;99(1-4):285-8. doi: 10.1159/000071605.


Craniofrontonasal syndrome is a rare dysostosis syndrome with an unusual pattern of X-linked inheritance, because males are usually not or less severely affected than females. Previously, a CFNS locus has been localised in Xp22. We report on a haplotype analysis in a German CFNS family, mapping the CFNS locus to the pericentromeric region of the X chromosome. This discrepancy can be explained by locus heterogeneity. Furthermore, random X inactivation could be demonstrated in affected females. The most plausible interpretation for this unusual pattern of X-linked inheritance is metabolic interference. Consequently, we propose that the CFNS gene escapes X inactivation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line
  • Chromosome Mapping
  • Chromosomes, Human, X / genetics*
  • Craniosynostoses / genetics*
  • Craniosynostoses / pathology
  • Dosage Compensation, Genetic
  • Family Health
  • Female
  • Genetic Linkage
  • Genetic Predisposition to Disease / genetics
  • Haplotypes
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Pedigree
  • Syndrome