BabyScreen+ newborn screening

Gene: PIGA

Red List (low evidence)

Treatment is essentially supportive, does not ameliorate neurodevelopmental disorder.

Created: 11 Dec 2022, 7:15 a.m. | Last Modified: 11 Dec 2022, 7:15 a.m.

Panel Version: 0.1281

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072

I don't know

PIGA-CDG is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy. The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy. Mildly increased alkaline phosphatase noted. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis

mutations can also cause a neonatal haemochromatosis phenotype (PMID: 33632934)

Can also cause paroxysmal nocturnal haemoglobinuria; therapies include terminal complement blockade and bone marrow transplantation; eculizumab, a monoclonal antibody complement inhibitor, specific for PNH (PMID: 28516949)

no obvious specific treatment for the severe form of the disease

Created: 11 Dec 2022, 6:53 a.m. | Last Modified: 11 Dec 2022, 6:53 a.m.

Panel Version: 0.1272

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
hypotonia; infantile epileptic encephalopathy; facial dysmorphism

Publications

• PMID: 32256299
• PMID: 24706016
• PMID: 25885527
• PMID: 24259184