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Here, we present sequencing data of a family with a potentially multigenic origin of CHD. Twelve of nineteen family members carry a familial mutation [NM_004329.2:c.1328\u2009G\u2009&gt;\u2009A (p.R443H)] which encodes a predicted deleterious\u00a0variant of BMPR1A. This mutation co-segregates with a linkage region on chromosome 1 that associates with the emergence of severe CHDs including Ebstein\u2019s anomaly, atrioventricular septal defect, and others. We show that the continuous overexpression of the zebrafish homologous mutation <jats:italic>bmpr1aa<\/jats:italic><jats:sup><jats:italic>p<\/jats:italic>.<jats:italic>R438H<\/jats:italic><\/jats:sup> within endocardium causes a reduced AV valve area, a downregulation of Wnt\/\u00df-catenin signalling at the AV canal, and growth of additional tissue mass in adult zebrafish hearts. This finding opens the possibility of testing genetic interactions between <jats:italic>BMPR1A<\/jats:italic> and other candidate genes within linkage region 1 which may provide a first step towards unravelling more complex genetic patterns in cardiovascular disease aetiology.<\/jats:p>","DOI":"10.1038\/s41598-019-39648-7","type":"journal-article","created":{"date-parts":[[2019,2,27]],"date-time":"2019-02-27T11:27:43Z","timestamp":1551266863000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["A familial congenital heart disease with a possible multigenic origin involving a mutation in BMPR1A"],"prefix":"10.1038","volume":"9","author":[{"given":"Till Joscha","family":"Demal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melina","family":"Heise","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benedikt","family":"Reiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deepika","family":"Dogra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid","family":"Br\u00e6nne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hermann","family":"Reichenspurner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00f6rg","family":"M\u00e4nner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zouhair","family":"Aherrahrou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heribert","family":"Schunkert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeanette","family":"Erdmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salim","family":"Abdelilah-Seyfried","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,2,27]]},"reference":[{"key":"39648_CR1","doi-asserted-by":"crossref","unstructured":"Lindinger, A., Schwedler, G. & Hense, H.-W. 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