Mutations in DCHS1 cause mitral valve prolapse.

doi:10.1038/nature14670

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Article

Mutations in DCHS1 cause mitral valve prolapse.

Nature - 3 Sept 2015

Durst Ronen, Sauls Kimberly, Peal David S, deVlaming Annemarieke, Toomer Katelynn, Leyne Maire, Salani Monica, Talkowski Michael E, Brand Harrison, Perrocheau Maëlle, Simpson Charles, Jett Christopher, Stone Matthew R, Charles Florie, Chiang Colby, Lynch Stacey N, Bouatia-Naji Nabila, Delling Francesca N, Freed Lisa A, Tribouilloy Christophe, Le Tourneau Thierry, LeMarec Hervé, Fernandez-Friera Leticia, Solis Jorge, Trujillano Daniel, Ossowski Stephan, Estivill Xavier, Dina Christian, Bruneval Patrick, Chester Adrian, Schott Jean-Jacques, Irvine Kenneth D, Mao Yaopan, Wessels Andy, Motiwala Tahirali, Puceat Michel, Tsukasaki Yoshikazu, Menick Donald R, Kasiganesan Harinath, Nie Xingju, Broome Ann-Marie, Williams Katherine, Johnson Amanda, Markwald Roger R, Jeunemaitre Xavier, Hagege Albert, Levine Robert A, Milan David J, Norris Russell A, Slaugenhaupt Susan A

Abstract excerpt

Mitral valve prolapse (MVP) is a common cardiac valve disease that affects nearly 1 in 40 individuals. It can manifest as mitral regurgitation and is the leading indication for mitral valve surgery. Despite a clear heritable component, the genetic aetiology leading to non-syndromic MVP has remain...

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Identifiers

PMID: 26258302
DOI: 10.1038/nature14670
PMCID: PMC4720389

Genes

DCHS1
MVP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26258302-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Mutations in DCHS1 cause mitral valve prolapse.PMID 26258302Read ↗

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Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defects.Semantic proximity Read ↗

De novo DCHS1 splicing mutation in a patient with mitral valve prolapse.Semantic proximity Read ↗

Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integritySemantic proximity Read ↗

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