New genetic tracks in mitral valve prolapse - 06/01/20
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Résumé |
Background |
Mitral valve prolapse (MVP) is a frequent and heterogeneous valve desease. To date, mutations of only DCSH1 and FLNA have been identified in non-syndromic MVP but account for a small subset of cases.
Purpose |
Our study aims to identify new genetic variants in non syndromic MVP.
Methods |
We performed whole-exome sequencing in a family including a one year-old female patient with a severe mitral regurgitation due to a complex MVP and her unaffected parents.
Results |
We identified a missense mutation in a gene known to be involved in cardiomyopathies but not in MVP. No mutation was found in DCSH1 and FLNA. The unaffected mother carried the same mutation as the index case. Functional studies on a mouse model showed that this gene is expressed in cells contributing to the mitral subvalvular apparatus development. Among thirteen patients with cardiomyopathy associated with mutation of the same gene, four had concomitant MVP.
Conclusion |
Our study identified a candidate gene for MVP potentially associated with cardiomyopathy.
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Vol 12 - N° 1
P. 90-91 - janvier 2020 Retour au numéro
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