Abstract: 【Abstract】 Objective To identify the mutation type of the proline-rich transmembrane protein 2 (PRRT2)gene in a PRRT2-related paroxysmal diseases family and analyze their clinical features. Methods There were three generations and seven people in this family. Five of them (the proband and her mother, brother, uncle and grandmother) had a history of convulsions. Peripheral blood of the five family members with convulsions history and proband's father were collected, and the genomic DNA of the whole blood was extracted and the whole-exome sequencing (WES) was performed. The pathogentic gene and mutation site (located in the second exon of PRRT2 gene) was screened according to the WES results. The target site of each family member was verified by Sanger sequencing method. Results Among the five patients in this family, two cases were diagnosed with benign familial infantile seizures, one case was paroxysmal kinesigenic dyskinesias and two cases were febrile convulsion. All of the five patients carried a heterozygous mutation of c.649dupC (p.R217Pfs*8) in exon 2 of PRRT2 gene. The father of proband did
not find this mutation site. Conclusion Heterozygous mutation of c.649dupC in PRRT2 gene existes in
this family, which leads the PRRT2-related paroxysmal disease.
熊永红 胡莉 严树涓 等 . PRRT2 相关发作性疾病家系致病基因的突变研究[J]. 发育医学电子杂志, 2019, 7(2): 136-140.
XIONG Yong-hong, HU Li, YAN Shu-juan, LI Di, WANG Xi-ke, YANG Zai-lan, LIU Kai-yu, HUANG Sheng-wen. Research on PRRT2 gene mutation and related paroxysmal diseases of family. Journal of Developmental Medicine(Electronic Version), 2019, 7(2): 136-140.
2019, Vol. 7 
