PIGN mutation multiple congenital anomalies-hypotonia-seizures syndrome 1:A case report  

作　　者：Fei Hou Shan Shan Hua Jin 

机构地区：[1]Department of Prenatal Diagnosis,Jinan Maternal and Child Health Hospital,Jinan 250001,Shandong Province,China

出　　处：《World Journal of Clinical Cases》2022年第16期5441-5445,共5页世界临床病例杂志

摘　　要：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.

关 键 词：PIGN Multiple congenital anomalies-hypotonia-seizures Syndrome 1 MCAHS1 Whole-exome sequencing 

分 类 号：R742.1[医药卫生—神经病学与精神病学]