Description of a Cohort with a New Truncating MYBPC3 Variant for Hypertrophic Cardiomyopathy in Northern Spain.

ABSTRACT:

Background

The pathogenicity of the different genetic variants causing hypertrophic cardiomyopathy (HCM) and the genotype/phenotype correlations are difficult to assess in clinical practice, as most mutations are unique or identified in non-informative families. Pathogenic variants in the sarcomeric gene MYBPC3 inherited with an autosomal dominant pattern, whereas incomplete and age-dependent penetrance are the most common causes of HCM.

Methods

We describe the clinical characteristics of a new truncating MYBPC3 variant, p.Val931Glyfs*120, in 75 subjects from 18 different families from northern Spain with the p.Val931Glyfs*120 variant.

Results

Our cohort allows us to estimate the penetrance and prognosis of this variant. The penetrance of the disease inc

SUBMITTER: Fernandez Suarez N 

PROVIDER: S-EPMC10137663 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature