Noonan Syndrome With café-au-lait Spots and Multiple Lentigines Syndrome Are Not Linked to the Neurofibromatosis Type 1 Locus

Clin Genet. 1995 Aug;48(2):85-9. doi: 10.1111/j.1399-0004.1995.tb04061.x.

Abstract

Noonan syndrome, multiple lentigines syndrome (LEOPARD syndrome), Watson syndrome and neurofibromatosis type 1 share certain clinical manifestations. We present a linkage analysis using microsatellite markers located in the neurofibromatosis type 1 region at 17q11 in a family with Noonan syndrome and café-au-lait spots and in another family with multiple lentigines syndrome. No linkage of the disease to the neurofibromatosis type 1 locus was found in the families investigated. On the basis of our results, we suggest that neither familial multiple lentigines syndrome nor Noonan syndrome is caused by a defect in the neurofibromatosis type 1 gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cafe-au-Lait Spots / genetics*
  • Chromosomes, Human, Pair 17
  • DNA / analysis
  • Female
  • Genetic Linkage
  • Humans
  • Lentigo / genetics*
  • Male
  • Neurofibromatosis 1 / genetics*
  • Noonan Syndrome / genetics*
  • Pedigree
  • Syndrome

Substances

  • DNA