title: Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association.
abstract: A large four-generation family with Noonan syndrome (NS) and neurofibromatosis-type 1 (NF1) was studied for clinical association between the two diseases and for linkage analysis with polymorphic DNA markers of the NF1 region in 17q11.2. Nonrandom segregation between NS and NF1 phenotypes was observed. Neurofibromatosis was tightly linked to NF1 markers, whereas Noonan syndrome was found not be allelic to NF1. These results suggest that two mutations at two independent but closely linked loci are the cause of neurofibromatosis-Noonan syndrome (NF-NS) association in this family.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U393, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Bahuau
authors.forename: W
authors.initials: W
authors.lastname: Flintoff
authors.forename: B
authors.initials: B
authors.lastname: Assouline
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: M
authors.initials: M
authors.lastname: Prieur
authors.forename: M
authors.initials: M
authors.lastname: Guilloud-Bataille
authors.forename: N
authors.initials: N
authors.lastname: Feingold
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: M
authors.initials: M
authors.lastname: Vidaud
authors.forename: D
authors.initials: D
authors.lastname: Vidaud
mesh_terms: D000483:Alleles; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D005260:Female; D016514:Genes, Neurofibromatosis 1 / Q000235:genetics; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics*; D009634:Noonan Syndrome / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic
chemical_list: D005819:Genetic Markers