Mapping a gene for Noonan Syndrome to the long arm of chromosome 12

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

DOI:https://doi.org/10.1038/ng1294-357· OSTI ID:133321

Jamieson, G R; Wade, A F; Elsawi, M ^[1]

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1. 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--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CARDIOVASCULAR DISEASES
CONGENITAL MALFORMATIONS
DOMINANT MUTATIONS
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 12
PATIENTS
STATISTICS