title: Mutation screening of AP3M2 in Japanese epilepsy patients.
abstract: Evidence that some types of epilepsies show strong genetic predisposition has been well documented. AP3M2 is considered to be an epileptogenic gene because AP3M2 knockout mice exhibit symptoms of spontaneous epileptic seizures. In order to investigate whether the AP3M2 gene causes susceptibility to epilepsy, we performed mutation screening of the genomic DNA of 190 patients with six epilepsy types; this screening involved all the 9 exons and the relevant exon-intron boundaries of AP3M2. Although neither missense nor nonsense mutations were detected, we identified 21 sequence variations, of which 16 variations were novel. Of the 21 variations, 11 were detected in 5' and 3' UTRs, while the remaining variations were detected in introns. Although the present study failed to identify the possible AP3M2 mutations that may cause epilepsy, our results suggest that some AP3M2 mutations still remain candidates for unmapped disorders including epilepsy, febrile seizure, and other neuronal developmental disorders associated with functional abnormalities of GABAergic transmission.
authors.affiliation: Comparative Systems Biology Team, Genomic Sciences Center, RIKEN, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama 230-0045, Japan.
authors.forename: Ming-Chih
authors.initials: MC
authors.lastname: Huang
authors.forename: Motohiro
authors.initials: M
authors.lastname: Okada
authors.forename: Fubito
authors.initials: F
authors.lastname: Nakatsu
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Oguni
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Ito
authors.forename: Kohtaro
authors.initials: K
authors.lastname: Morita
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Nagafuji
authors.forename: Shinichi
authors.initials: S
authors.lastname: Hirose
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Sakaki
authors.forename: Sunao
authors.initials: S
authors.lastname: Kaneko
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ohno
authors.forename: Toshio
authors.initials: T
authors.lastname: Kojima
mesh_terms: D033963:Adaptor Protein Complex 3 / Q000235:genetics*; D033983:Adaptor Protein Complex mu Subunits / Q000235:genetics*; D044466:Asian People; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D020506:Untranslated Regions / Q000235:genetics*
chemical_list: C510070:AP3M2 protein, human; D033963:Adaptor Protein Complex 3; D033983:Adaptor Protein Complex mu Subunits; D020506:Untranslated Regions