Blueprint Genetics (Finland)

A MORC2 Variant Associated With Severe Intellectual Disability and Unusual Phenotype

The microrchidia CW-type zinc finger protein 2 (MORC2) gene encodes an epigenetic regulator, variants in which are often associated with Charcot-Tooth-Marie (CMT) disease type 2Z. In recent years, notable phenotypic variation has been identified in patients with different MORC2 v...

Expanding the cardiac phenotype of homozygous PPA2 variants: insights from a large Finnish family

Abstract Background Cardiomyopathies in children associate with significant morbidity and mortality. PPA2 deficiency is a rare mitochondrial disorder linked to sudden cardiac death in children and adolescents. Most reported cases are post-mortem, with limited data on surviving in...