Mapping a gene for Noonan Syndrome to the long arm of chromosome 12
- St. George`s Hospital Medical School, London (United Kingdom); and others
Noonan syndrome is an autosomal dominant disorder of unknown origin characterized by typical facial features, short stature and congenital heart disease. Noonan syndrome is the second most common syndrome associated with congenital heart disease after Down`s syndrome. To localize the gene for Noonan syndrome, linkage studies were carried out in 19 multigeneration families. A total of 57 patients affected with Noonan syndrome out of a total of 106 members from 19 families were analyzed. All affected patients fulfilled the minimum diagnostic criteria for Noonan syndrome. In the largest family, 9 out of 29 members were affected. Genotypes using 200(CA)n microsatellite markers were analyzed and two markers D12S105 and D12S79 produced significantly positive LOD scores in this family (Zmax=4.32 at {theta}=0). Analysis using these and other markers were carried out in the 19 families and the LOD scores obtained were Zmax=3.73, Zmax=4.98 and Zmax=5.58 at {theta}=0.1 at the D12S105/D12S354/D12S79 loci, respectively. This is the first time that a locus for Noonan syndrome has been mapped. The identification of a gene for Noonan syndrome on chromosome 12q will enable us to understand further the development of the mammalian heart and factors involved in growth.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 133321
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0048
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
Similar Records
Genetic map of the spinocerebellar ataxia type 2 (SCA2) region on chromosome 12
A dominant spinocerebellar ataxia gene (SCA5) in a family descendent from the paternal grandparents of President Lincoln maps to chromosome 11