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Article

Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse.

American journal of medical genetics. Part A - 1 Jan 2014

Aalberts Jan J J, van Tintelen J Peter, Oomen Toon, Bergman Jorieke E H, Halley Dicky J J, Jongbloed Jan D H, Suurmeijer Albert J H, van den Berg Maarten P

Abstract excerpt

So far only mutations in the filamin A gene (FLNA) have been identified as causing familial mitral valve prolapse (MVP). Previous studies have linked dysregulation of the transforming growth factor beta (TGF-β) cytokine family to MVP. We investigated whether mutations in the TGF-β receptors genes type I (TGFBR1) and II (TGFBR2) underlie isolated familial MVP cases. Eight families with isolated familial MVP were...

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Source

Identifiers

PMID: 24243761
DOI: 10.1002/ajmg.a.36211

Genes

FLNA
TGFBR1
TGFBR2
MVP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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