title: Mapping a gene for Noonan syndrome to the long arm of chromosome 12.
abstract: Noonan syndrome is characterized by typical facies, short stature and congenital cardiac defects. Approximately half of all cases are sporadic, but autosomal dominant inheritance with variable expression is well established. We have performed a genome-wide linkage analysis in a large Dutch kindred with autosomal dominant Noonan syndrome, and localized the Noonan syndrome gene to chromosome 12 (Zmax = 4.04 at 0 = 0.0). Linkage analysis using chromosome 12 markers in 20 smaller, two-generation families gave Zmax = 2.89 at 0 = 0.07, but haplotype analysis showed non-linkage in one family. These data imply that a gene for Noonan syndrome is located on chromosome 12q, between D12S84 and D12S366.
authors.affiliation: Medical Genetics Unit, St. George's Hospital Medical School, London, UK.
authors.forename: C R
authors.initials: CR
authors.lastname: Jamieson
authors.forename: I
authors.initials: I
authors.lastname: van der Burgt
authors.forename: A F
authors.initials: AF
authors.lastname: Brady
authors.forename: M
authors.initials: M
authors.lastname: van Reen
authors.forename: M M
authors.initials: MM
authors.lastname: Elsawi
authors.forename: F
authors.initials: F
authors.lastname: Hol
authors.forename: S
authors.initials: S
authors.lastname: Jeffery
authors.forename: M A
authors.initials: MA
authors.lastname: Patton
authors.forename: E
authors.initials: E
authors.lastname: Mariman
mesh_terms: D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics*; D010375:Pedigree