No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families.
A linkage analysis has been performed on 6 two-generation families with classical Noonan syndrome to determine whether the syndrome is linked to neurofibromatosis type 1 on chromosome 17q or to neurofibromatosis type 2 on chromosome 22q. A significantly negative location score was obtained between 10 cM centromeric to and 15 cM telomeric from the neurofibromatosis type 1 locus. A significantly negative lod score was obtained with a marker mapping within the region where neurofibromatosis type 2 is thought to be located. These data indicate that Noonan syndrome is not tightly linked to either neurofibromatosis type 1 or type 2.
Flintoff
W F
WF
Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM, Paris, France.
Bahuau
M
M
Lyonnet
S
S
Gilgenkrantz
S
S
Lacombe
D
D
Marçon
F
F
Levilliers
J
J
Kachaner
J
J
Munnich
A
A
Le Merrer
M
M
D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D002892:Chromosomes, Human, Pair 22; D005260:Female; D016514:Genes, Neurofibromatosis 1; D016515:Genes, Neurofibromatosis 2; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic