No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families

Am J Med Genet. 1993 Jul 1;46(6):700-5. doi: 10.1002/ajmg.1320460621.

Abstract

A linkage analysis has been performed on 6 two-generation families with classical Noonan syndrome to determine whether the syndrome is linked to neurofibromatosis type 1 on chromosome 17q or to neurofibromatosis type 2 on chromosome 22q. A significantly negative location score was obtained between 10 cM centromeric to and 15 cM telomeric from the neurofibromatosis type 1 locus. A significantly negative lod score was obtained with a marker mapping within the region where neurofibromatosis type 2 is thought to be located. These data indicate that Noonan syndrome is not tightly linked to either neurofibromatosis type 1 or type 2.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 17
  • Chromosomes, Human, Pair 22
  • Female
  • Genes, Neurofibromatosis 1*
  • Genes, Neurofibromatosis 2*
  • Genetic Linkage*
  • Humans
  • Male
  • Noonan Syndrome / diagnosis
  • Noonan Syndrome / genetics*
  • Pedigree
  • Polymorphism, Genetic