BACKGROUND Multiple congenital anomalies-hypotonia-seizures syndrome 1(MCAHS1)associated with mutations in PIGN gene.CASE SUMMARY The authors report 1 case of a 16 years old girl who was presented with epilepsy,develo...BACKGROUND Multiple congenital anomalies-hypotonia-seizures syndrome 1(MCAHS1)associated with mutations in PIGN gene.CASE SUMMARY The authors report 1 case of a 16 years old girl who was presented with epilepsy,developmental delay and cerebellar atrophy.She harbors a compound heterozygous variant in the PIGN gene,include a nonsense splice site mutation(c.2557A>C)which was inherited from her mother,and a novel site mutation(c.980del)which was inherited from her father.CONCLUSION This case report expands the mutation spectrum found in PIGN gene,and strengthens the association between PIGN mutation and MCAHS1.Mutations in PIGN gene may be an underestimated cause of epilepsy.The authors recommend that,for patients with epilepsy or prenatal diagnosis of highly suspicious fetus,gene sequencing should be the preferred detection method.展开更多
文摘BACKGROUND Multiple congenital anomalies-hypotonia-seizures syndrome 1(MCAHS1)associated with mutations in PIGN gene.CASE SUMMARY The authors report 1 case of a 16 years old girl who was presented with epilepsy,developmental delay and cerebellar atrophy.She harbors a compound heterozygous variant in the PIGN gene,include a nonsense splice site mutation(c.2557A>C)which was inherited from her mother,and a novel site mutation(c.980del)which was inherited from her father.CONCLUSION This case report expands the mutation spectrum found in PIGN gene,and strengthens the association between PIGN mutation and MCAHS1.Mutations in PIGN gene may be an underestimated cause of epilepsy.The authors recommend that,for patients with epilepsy or prenatal diagnosis of highly suspicious fetus,gene sequencing should be the preferred detection method.
