Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots

Am J Med Genet. 1993 Jun 1;46(4):472-4. doi: 10.1002/ajmg.1320460428.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Alleles
  • Child
  • Chromosome Mapping
  • Female
  • Genes, Neurofibromatosis 1*
  • Genetic Linkage*
  • Humans
  • Mutation
  • Neurofibromatoses / genetics*
  • Neurofibromatoses / pathology
  • Pedigree
  • Pigmentation Disorders / genetics*
  • Pigmentation Disorders / pathology