Loss of ADAMTS19 causes progressive non-syndromic heart valve disease.

ABSTRACT: Valvular heart disease is observed in approximately 2% of the general population¹. Although the initial observation is often localized (for example, to the aortic or mitral valve), disease manifestations are regularly observed in the other valves and patients frequently require surgery. Despite the high frequency of heart valve disease, only a handful of genes have so far been identified as the monogenic causes of disease^2-7. Here we identify two consanguineous families, each with two affected family members presenting with progressive heart valve disease early in life. Whole-exome sequencing revealed homozygous, truncating nonsense alleles in ADAMTS19 in all four affected individuals. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating

SUBMITTER: Wunnemann F 

PROVIDER: S-EPMC7197892 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature