A case of Multiple Congenital Anomalies-Hypotonia Seizure Syndrome 3 (MCAHS3) with novel heterozygous mutation in PIGT gene

초록

Heterogygous mutations in PIGT gene of the glycosylphosphatidylinositol (GPI) - anchor synthesis pathway reported in Multiple Congenital Anomalies-Hypotonia Seizures Syndome 3(MCAHS3), associated with congenital anomalies, epileptic encephalopathy and intellectual disability. In this report, we describe a six-year-old boy with several of the typical features of MCAHS3 and inherited heterozygous PIGT mutation. c.250G>T (p. Glu84*) and c.1342C>T (p. Arg488Trp).This is the first Korean reported case of MCAHS3 associated with GPI-anchor deficiency and a heterozygous PIGT mutations.