A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome

Journal Article · Wed Feb 01 04:00:00 EST 1995 · American Journal of Human Genetics

OSTI ID:70410

Gilbert-Dussardier, B ^[1]; Bonneau, D ^[1]; Gigarel, N; Le Merrer, M; Bonnet, D; Lyonnet, S; Munnich, A ^[1]; Philip, N; Mattei, M G ^[2]

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1. Hopital des Enfants-Malades, Paris (France)
2. Hopital de La Timone, Marseille (France); and others

Williams syndrome (WS) is a predominantly sporadic developmental disorder characterized by dysmorphic facial features, infantile hypercalcemia, premature aging of skin, mental retardation and gregarious personality. Supravalvular aortic stenosis (SVAS) and other vascular diseases caused by the narrowing of large elastic arteries are present in almost 80% of cases. Recently, hemizygosity at the elastin locus has been shown in sporadic WS, suggesting that this disease is caused by deletions encompassing the elastin gene on chromosome 7q11.23. Taking advantage of a large series of sporadic WS (27 cases), we have explored the potential application of novel microsatellite DNA markers in the rapid detection of hemizygosity in WS. We report here a highly informative marker at locus D7S1870, which detected failure of parental inheritance in almost 75% of cases of WS in our series. This marker can be regarded therefore as a reliable and useful diagnostic tool in suspected cases of WS as well as in complicated forms of supravalvular aortic stenosis. 10 refs., 2 figs.

• OSTI ID: 70410
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 2 Vol. 56; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
GENES
GENETIC MAPPING
GENETICS
HUMAN CHROMOSOME 7
MENTAL DISORDERS
PATIENTS
POLYMERASE CHAIN REACTION
TELOMERES
VASCULAR DISEASES