Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction.

doi:10.1136/jmg-2023-109278

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Article

Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction.

Journal of medical genetics - 19 Jan 2024

Zhou Nan, Zhao Qianhao, Li Rui, Cheng Ruofei, Wu Qiuping, Cheng Jianding, Chen Yangxin

Abstract excerpt

BACKGROUND: Mitral annular disjunction (MAD) is an under-recognised phenotype associated with severe ventricular arrhythmias. Limited knowledge has been gained on its molecular genesis. METHODS: A total of 150 unrelated deceased Chinese were collected for whole-exome sequencing, with analysis focusing on a panel of 118 genes associated with 'abnormal mitral valve morphology'. Cases were prespecified as...

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PMID: 37399314
DOI: 10.1136/jmg-2023-109278

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