Elastin mutation screening in a group of patients affected by vascular abnormalities.

Elastin mutation screening in a group of patients affected by vascular abnormalities. Research Abstract Details 

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Elastin mutation screening in a group of patients affected by vascular abnormalities. Abstract Text:

L Rodriguez-Revenga,C Badenas,A Carrió,M Milà,

Supravalvular aortic stenosis is an uncommon but well-characterized congenital form of left ventricular outflow obstruction. The lesion involves the ascending aorta and often occurs in association with pulmonary arterial stenoses or stenoses of other arteries, especially at major branch points. It can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome. In fact, the clinical and structural characteristics of supravalvular aortic stenosis are identical in both syndromic and nonsyndromic cases. The severity of supravalvular aortic stenosis varies; but if it is left untreated, it may result in heart failure, myocardial infarction, and sudden death. Supravalvular aortic stenosis in Williams-Beuren patients occurs as a consequence of a complete deletion of one copy of the elastin gene on chromosome 7q11.23. However, the underlying genetic cause of isolated supravalvular aortic stenosis has been identified as translations, gross intragenic deletions, and point mutations that disrupt the elastin gene. We report the results obtained in a mutation screening of the elastin gene in 28 patients with supravalvular aortic stenosis and other vascular abnormalities. The aim of the screening was to characterize the molecular cause of this lesion. We have detected 11 changes, including nine polymorphisms and two novel putative missense mutations.

Elastin mutation screening in a group of patients affected by vascular abnormalities. Publishing Authors By Initials

L Rodriguez-Revenga,C Badenas,A Carrió,M Milà,

For similar nervous system diseases: neurologic manifestations: neurobehavioral manifestations: mental retardation: williams syndrome research abstracts see: nervous system diseases: neurologic manifestations: neurobehavioral manifestations: mental retardation: williams syndrome research

PUBMED ID PMID:

MEDLINE DATE: 2005 Nov-Dec

Elastin mutation screening in a group of patients affected by vascular abnormalities. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Pediatric cardiology

VOLUME: 26

Page Numbers: 827-31

Journal Abbreviation: Pediatr Cardiol

ISSN: 0172-0643

DAY: 20

MONTH: 02

YEAR: 2008

Elastin mutation screening in a group of patients affected by vascular abnormalities. Information

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LANGUAGE: eng

NlmUniqueID: 8003849

Elastin mutation screening in a group of patients affected by vascular abnormalities. Keywords Mesh Terms:

KEYWORDS: Williams Syndrome

MESH TERMS: genetics

Chemical & Substance for Abstract: Elastin mutation screening in a group of patients affected by vascular abnormalities. Information

Substance Name: Elastin

Registry Number: 9007-58-3

Grant and Affiliation Information for Elastin mutation screening in a group of patients affected by vascular abnormalities.

AFFILIATION: Genetics Service, Centre de Diagnòstic Biomèdic, Hospital Clínic, C/Villarroel 170, 08036, Barcelona, Spain.

Country: United States

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MEDLINETA: Pediatr Cardiol

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