Publications by authors named "M van Slegtenhorst"
Family screening for hypertrophic cardiomyopathy: Initial cardiologic assessment, and long-term follow-up of genotype-positive phenotype-negative individuals.
Int J Cardiol
December 2024
Aims: (i) Investigate the prevalence of hypertrophic cardiomyopathy (HCM) in individuals with pathogenic/likely pathogenic (P/LP) gene variants detected through family cascade testing in relatives, and (ii) evaluate phenotypic progression in genotype-positive phenotype-negative (G+/P-) individuals during follow-up.
Results: From 2000 to 2023, 273 individuals underwent cardiologic evaluation following P/LP variant detection through family screening. Upon initial evaluation, HCM was diagnosed in 128 (47 %) individuals.
Loss of quality of life and increased societal costs in patients with hypertrophic cardiomyopathy: the AFFECT-HCM study.
Eur Heart J Qual Care Clin Outcomes
November 2024
Introduction: Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiac disease. The impact of HCM on quality of life (QoL) and societal costs remains poorly understood. This prospective multi-centre burden of disease study estimated QoL and societal costs of genotyped HCM patients and genotype-positive phenotype-negative (G+/P-) subjects.
View Article and Find Full Text PDFBackground: The aim of this study was to evaluate the diagnostic yield of routine exome sequencing (ES) in fetuses with ultrasound anomalies.
Methods: We performed a retrospective analysis of the ES results of 629 fetuses with isolated or multiple anomalies referred in 2019-2022. Variants in a gene panel consisting of approximately 3400 genes associated with multiple congenital anomalies and/or intellectual disability were analyzed.
Article Synopsis
- - The study examines how secondary genetic variants can influence the clinical features of individuals with primary disease-causing variants, suggesting that these modifiers play a significant role in disease expression.
- - Specifically focusing on the 16p12.1 deletion, researchers identified various rare and common variants that predisposed individuals to specific developmental issues, such as neurological defects and microcephaly.
- - By analyzing data from different cohorts, the findings indicate that the effects of primary and secondary variants on phenotype vary depending on the specific primary variant involved, highlighting the need for personalized approaches in treatment.
Article Synopsis
- Nuclear pore complexes (NPCs) are critical for transporting materials in and out of the nucleus, and their assembly relies on a transmembrane protein called NDC1, which is essential for recruiting another protein, ALADIN, to the nuclear envelope.
- Biallelic mutations in the NDC1 gene have been identified in individuals with a triple A-like syndrome (excluding adrenal insufficiency), characterized by symptoms such as intellectual disability, motor impairment, and demyelinating polyneuropathy, which are similar to those seen in triple A syndrome caused by ALADIN mutations.
- Research indicates that these mutations hinder the proper function of NDC1, affecting its ability to recruit ALADIN, thereby leading to the observed neurological symptoms and