Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHSS-3) is transmitted in an autosomal recessive manner, which means that both copies of the gene must carry the mutations for the disease to occur. Different types of disease-causing variants in PIGT can occur in the PIGT gene, and must affect both alleles (copies) of the gene to cause a disease. When the PIGT gene is mutated, there is a reduced cell-surface expression of GPI-anchored proteins. The GPI-anchored proteins are important for the development and functioning of the brain.
PIGT