Research ArticleCardiovascular Disease

Primary cilia defects causing mitral valve prolapse

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Science Translational Medicine  22 May 2019:
Vol. 11, Issue 493, eaax0290
DOI: 10.1126/scitranslmed.aax0290

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DZIPping along to diagnosis

Mitral valve prolapse is a common congenital abnormality that can cause severe complications. By combining studies of mitral valve development in mice with human genetic data, Toomer et al. found that mitral valve prolapse can be caused by abnormal cilia function. The authors tracked mitral valve development in mice from fetal life to adulthood and also performed genetic analysis of human patients with mitral valve prolapse, particularly one family with an inherited form of the disease. The affected members of this family had a mutation in DZIP1, a gene that regulates ciliogenesis, and mice with this mutation also developed mitral valve prolapse, supporting its pathogenic nature.

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