title: Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus.
abstract: Noonan syndrome, multiple lentigines syndrome (LEOPARD syndrome), Watson syndrome and neurofibromatosis type 1 share certain clinical manifestations. We present a linkage analysis using microsatellite markers located in the neurofibromatosis type 1 region at 17q11 in a family with Noonan syndrome and café-au-lait spots and in another family with multiple lentigines syndrome. No linkage of the disease to the neurofibromatosis type 1 locus was found in the families investigated. On the basis of our results, we suggest that neither familial multiple lentigines syndrome nor Noonan syndrome is caused by a defect in the neurofibromatosis type 1 gene.
authors.affiliation: Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
authors.forename: B E
authors.initials: BE
authors.lastname: Ahlbom
authors.forename: N
authors.initials: N
authors.lastname: Dahl
authors.forename: P
authors.initials: P
authors.lastname: Zetterqvist
authors.forename: G
authors.initials: G
authors.lastname: Annerén
mesh_terms: D019080:Cafe-au-Lait Spots / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D004247:DNA / Q000032:analysis; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007911:Lentigo / Q000235:genetics*; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics*; D009634:Noonan Syndrome / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
chemical_list: D004247:DNA