Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis

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Why the study?

Do point mutations in the elastin gene (ELN) cause supravalvular aortic stenosis?

Population

Four familial cases and three sporadic cases of supravalvular aortic stenosis (SVAS)

Design

Case_series

Authors

Discussion

ELN mutations may cause autosomal dominant SVAS; hypothesis-generating and requires larger studies before guiding testing.

Do point mutations in the elastin gene (ELN) cause supravalvular aortic stenosis?

Population

Four familial cases and three sporadic cases of supravalvular aortic stenosis (SVAS)

Intervention

Mutational analysis of the elastin gene (ELN)

Outcome

Identification of ELN point mutationssurrogate

This study provides evidence that point mutations in the elastin gene (ELN) cause autosomal dominant supravalvular aortic stenosis.

Dong Li (1997) studied this question.

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