Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: evidence of non-linkage.
Multiple café-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 café-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 café-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 Café-Au-Lait Spots (FCAL) to distinguish it from the neurofibromatosis syndromes.
Charrow
J
J
Division of Genetics, Children's Memorial Hospital, Chicago, Illinois 60614.
Listernick
R
R
Ward
K
K
D000483:Alleles; D005799:Genes, Dominant; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology*