title: Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.
abstract: Paroxysmal kinesigenic dyskinesia (PKD (MIM128000)) is a neurological disorder characterized by recurrent attacks of involuntary movements. Benign familial infantile convulsion (BFIC) is also one of a neurological disorder characterized by clusters of epileptic seizures. The BFIC1 (MIM601764), BFIC2 (MIM605751) and BFIC4 (MIM612627) loci have been mapped to chromosome 19q, 16p and 1p, respectively, while BFIC3 (MIM607745) is caused by mutations in SCN2A on chromosome 2q24. Furthermore, patients with BFIC have been observed in a family concurrently with PKD. Both PKD and BFIC2 are heritable paroxysmal disorders and map to the same region on chromosome 16. Recently, the causative gene of PKD, the protein-rich transmembrane protein 2 (PRRT2), has been detected using whole-exome sequencing. We performed mutation analysis of PRRT2 by direct sequencing in 81 members of 17 families containing 15 PKD families and two BFIC families. Direct sequencing revealed that two mutations, c.649dupC and c.748C>T, were detected in all members of the PKD and BFIC families. Our results suggest that BFIC2 is caused by a truncated mutation that also causes PKD. Thus, PKD and BFIC2 are genetically identical and may cause convulsions and involuntary movements via a similar mechanism.
authors.affiliation: Department of Psychiatry, Nagasaki University Hospital, Sakamoto 1-7-1, Nagasaki, Japan.
authors.forename: Shinji
authors.initials: S
authors.lastname: Ono
authors.forename: Koh-ichiro
authors.initials: K
authors.lastname: Yoshiura
authors.forename: Akira
authors.initials: A
authors.lastname: Kinoshita
authors.forename: Taeko
authors.initials: T
authors.lastname: Kikuchi
authors.forename: Yoshibumi
authors.initials: Y
authors.lastname: Nakane
authors.forename: Nobumasa
authors.initials: N
authors.lastname: Kato
authors.forename: Miyuki
authors.initials: M
authors.lastname: Sadamatsu
authors.forename: Tohru
authors.initials: T
authors.lastname: Konishi
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Nagamitsu
authors.forename: Masato
authors.initials: M
authors.lastname: Matsuura
authors.forename: Ayako
authors.initials: A
authors.lastname: Yasuda
authors.forename: Maki
authors.initials: M
authors.lastname: Komine
authors.forename: Kazuaki
authors.initials: K
authors.lastname: Kanai
authors.forename: Takeshi
authors.initials: T
authors.lastname: Inoue
authors.forename: Toshio
authors.initials: T
authors.lastname: Osamura
authors.forename: Kayoko
authors.initials: K
authors.lastname: Saito
authors.forename: Shinichi
authors.initials: S
authors.lastname: Hirose
authors.forename: Hiroyoshi
authors.initials: H
authors.lastname: Koide
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Tomita
authors.forename: Hiroki
authors.initials: H
authors.lastname: Ozawa
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
authors.forename: Naohiro
authors.initials: N
authors.lastname: Kurotaki
mesh_terms: D044466:Asian People / Q000235:genetics; D002819:Chorea / Q000235:genetics*; D004252:DNA Mutational Analysis; D020936:Epilepsy, Benign Neonatal / Q000235:genetics*; D005190:Family; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human