A familial congenital heart disease with a possible multigenic origin involving a mutation in BMPR1A View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12

AUTHORS

Till Joscha Demal, Melina Heise, Benedikt Reiz, Deepika Dogra, Ingrid Brænne, Hermann Reichenspurner, Jörg Männer, Zouhair Aherrahrou, Heribert Schunkert, Jeanette Erdmann, Salim Abdelilah-Seyfried

ABSTRACT

The genetics of many congenital heart diseases (CHDs) can only unsatisfactorily be explained by known chromosomal or Mendelian syndromes. 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 G > A (p.R443H)] which encodes a predicted deleterious variant of BMPR1A. This mutation co-segregates with a linkage region on chromosome 1 that associates with the emergence of severe CHDs including Ebstein's anomaly, atrioventricular septal defect, and others. We show that the continuous overexpression of the zebrafish homologous mutation bmpr1aap.R438H within endocardium causes a reduced AV valve area, a downregulation of Wnt/ß-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 BMPR1A and other candidate genes within linkage region 1 which may provide a first step towards unravelling more complex genetic patterns in cardiovascular disease aetiology. More... »

PAGES

2959

References to SciGraph publications

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41598-019-39648-7

    DOI

    http://dx.doi.org/10.1038/s41598-019-39648-7

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1112395291

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30814609


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