Autosomal dominant multiple cafe-au-lait spots and neurofibromatosis-1: Evidence of non-linkage

Joel Charrow*, Robert H Listernick, K. Ward

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

44 Scopus citations


Multiple cafe-au-lait spots have been observed in successive generations of several families without any other manifestations of neurofibromatosis (NF) or any other systemic disorder. The cafe-au-lait spots in these families segregate as an autosomal dominant trait. The relationship (if any) between the gene for this trait and the NF-1 gene has previously been unknown. We describe a family with five individuals spanning four generations with dominantly inherited cafe-au-lait spots, without any other stigmata of NF-1. Linkage analysis with probes proximal, distal, and within the NF-1 gene indicate that the trait in this family is not linked to NF-1. We propose that this condition be called Familial Cafe-Au-Lait Spots (FCAL) to distinguish it from the neurofibromatosis syndromes.

Original languageEnglish (US)
Pages (from-to)606-608
Number of pages3
JournalAmerican Journal of Medical Genetics
Issue number5
StatePublished - Jan 1 1993


  • NF-1 gene
  • cafe-au-lait spots
  • neurofibromatosis

ASJC Scopus subject areas

  • Genetics(clinical)


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