Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family.
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.
Legius
E
E
Center for Human Genetics, Leuven, Belgium.
Schollen
E
E
Matthijs
G
G
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12; D005145:Face / Q000002:abnormalities*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D005838:Genotype; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics*; D010375:Pedigree; D012868:Skin Abnormalities / Q000235:genetics* / Q000473:pathology; D013577:Syndrome