Article
Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology.
Journal of medical genetics - 1 Dec 2020
van Wijngaarden Aniek L, Hiemstra Yasmine L, Koopmann Tamara T, Ruivenkamp Claudia A L, Aten Emmelien, Schalij Martin J, Bax Jeroen J, Delgado Victoria, Barge-Schaapveld Daniela Q C M, Ajmone Marsan Nina
Abstract excerpt
PURPOSE: Although a familial distribution has been documented, the genetic aetiology of mitral valve prolapse (MVP) is largely unknown, with only four genes identified so far: FLNA, DCHS1, DZIP1 and PLD1. The aim of this study was to evaluate the genetic yield in known causative genes and to identify possible novel genes associated with MVP using a heart gene panel based on exome sequencing. METHODS: Patients...
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