One Gene – Two Modes of Inheritance

Novel Autosomal Recessive Splice-Altering Variant in PRKD1 Is Associated with Congenital Heart Disease

While most genetic disorders have one clearly defined mode of inheritance, the existence of rare exceptions is being increasingly recognized. A recent diagnostic finding at CENTOGENE revealed that mutations in PRKD1 can cause heart defects not only in an autosomal dominant, but also in an autosomal recessive manner. The findings were published in the journal Genes.


  • Salam Massadeh
  • et al.