title: Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots.
abstract: We have performed linkage analysis in a small family with autosomal dominant inheritance of multiple café-au-lait spots (CLS) in order to clarify its relationship to classical von Recklinghausen disease (NF 1). We found that an affected woman had transmitted a different haplotype for markers flanking the NF1 gene to both of her affected daughters. These results exclude an allelic mutation of the NF 1 gene on chromosome 17 as the cause for inherited café-au-lait spots in this family.
authors.affiliation: Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
authors.forename: H G
authors.initials: HG
authors.lastname: Brunner
authors.forename: T
authors.initials: T
authors.lastname: Hulsebos
authors.forename: P M
authors.initials: PM
authors.lastname: Steijlen
authors.forename: D J
authors.initials: DJ
authors.lastname: der Kinderen
authors.forename: A
authors.initials: A
authors.lastname: vd Steen
authors.forename: B C
authors.initials: BC
authors.lastname: Hamel
mesh_terms: D000293:Adolescent; D000483:Alleles; D002648:Child; D002874:Chromosome Mapping; D005260:Female; D016514:Genes, Neurofibromatosis 1; D008040:Genetic Linkage; D006801:Humans; D009154:Mutation; D017253:Neurofibromatoses / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics* / Q000473:pathology