Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots.
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.
Brunner
H G
HG
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
Hulsebos
T
T
Steijlen
P M
PM
der Kinderen
D J
DJ
vd Steen
A
A
Hamel
B C
BC
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