[P3-158] A novel mutation in PIGN responsible for multiple congenital Anomalies- Hypotonia-Seizures syndrome 1 [MCAHS1] in a Chinese infant: A case report
Multiple congenital Anomalies-Hypotonia-Seizures syndrome 1[MCAHS1] is an autosomal recessive disease caused by mutations in PIGN gene involved in the glycosylphoshatidylinositola(GPI) anchor biosynthesis pathway. The syndrome is characterized by developmental delay, hypotonia, epilepsy, multiple congenital anomalies of hands, feet, heart, gastrointestinal system, genitourinary system, genital system, brain, and dysmorphic features. MCAHS1 was previously described in an Israeli-Arab families with seven affected individuals in 2011, and a total of 15 affected individuals with mutations in PIGN have since been reported to date. Here, we first report a affected 10-months-old Chinese girl with compound heterozygous PIGN mutations [paternally inherited: c.283C>T(p.R95W), maternally inherited: c.1759C>T(p.R587X) and c.163C>T(p.R55X)] showing congenital anomalies, developmental delay, hypotonia, epilepsy, and gastrectasia. These compound heterozygous mutations caused a significantly decrease of the overall GPI-anchored proteins, CD 16, CD 24 and CD59 expression on granulocytes. Our findings further testify the pathogenicity of the mutation of PIGN and extend the genotype of MCAHS1.