title: Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.
abstract: Febrile seizures (FS), the most frequent type of seizures in children, occur in neurologically normal infants and children between the ages of 3 months and 5 years with genetic predisposition. The aim of this study was to identify the responsible gene in a four-generation Chinese Han pedigree with autosomal dominant FS. Seven family members (three affected and four unaffected) were enrolled in this study. Exome sequencing was conducted and a duplication mutation c.649dupC (p.R217Pfs*8) in the proline-rich transmembrane protein 2 gene (PRRT2) was identified. The mutation co-segregated with the disorder and was absent in normal controls. To our knowledge, this is the first report of a pedigree with complete penetrance of FS, which is caused by mutation in the PRRT2 gene. FS is a novel phenotype of the c.649dupC (p.R217Pfs*8) mutation. Our discovery broadens the spectrum of genetic causes of FS and the spectrum of phenotypes linked to mutation in the PRRT2 gene.
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.|Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Tongzipo Road 138, Changsha, 410013, Hunan, China.
authors.forename: Wen
authors.initials: W
authors.lastname: Zheng
authors.affiliation: Department of Neurology, Hunan Children's Hospital, Changsha, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Tongzipo Road 138, Changsha, 410013, Hunan, China.
authors.forename: Xiong
authors.initials: X
authors.lastname: Deng
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Jingjing
authors.initials: J
authors.lastname: Xiao
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Tongzipo Road 138, Changsha, 410013, Hunan, China.
authors.forename: Lamei
authors.initials: L
authors.lastname: Yuan
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Yang
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Liping
authors.initials: L
authors.lastname: Guan
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Zhi
authors.initials: Z
authors.lastname: Song
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Tongzipo Road 138, Changsha, 410013, Hunan, China.
authors.forename: Zhijian
authors.initials: Z
authors.lastname: Yang
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China. hdeng008@yahoo.com.|Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Tongzipo Road 138, Changsha, 410013, Hunan, China. hdeng008@yahoo.com.
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D018389:Codon, Nonsense / Q000235:genetics*; D059472:Exome / Q000235:genetics; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D003294:Seizures, Febrile / Q000235:genetics*; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human
keywords: Exome sequencing; Febrile seizures; Genetic counseling; Mutation; PRRT2