Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family

Eur J Hum Genet. 1998 Jan;6(1):32-7. doi: 10.1038/sj.ejhg.5200150.


Noonan syndrome (NS) is an autosomal dominant condition with facial dysmorphy, congenital cardiac defects and short stature. A gene for NS has previously been linked to a 14 cM region in 12q24. We performed linkage analysis in a four generation Belgian family with NS in some individuals and cardio-facio-cutaneous (CFC) syndrome in others. Clinical data and linkage data in this family indicate that NS and CFC syndrome result from a variable expression of the same genetic defect. We report a maximum lod score of 4.43 at zero recombination for marker D12S84 in 12q24. A crossover in this pedigree narrows the candidate gene region for NS to a 5 cM interval between markers D12S84 and D12S1341.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, Pair 12*
  • Face / abnormalities*
  • Female
  • Genetic Linkage / genetics*
  • Genotype
  • Heart Defects, Congenital / genetics*
  • Humans
  • Lod Score
  • Male
  • Noonan Syndrome / genetics*
  • Pedigree
  • Skin Abnormalities / genetics*
  • Skin Abnormalities / pathology
  • Syndrome