title: Three novel mutations of the PAX6 gene in Japanese aniridia patients.
abstract: Mutations in the PAX6 gene of Japanese aniridia patients were analyzed. Four types of mutations including one known (474delC) and three novel (786_787ins10, 678_688del11 and 572_575delAATCins14) were found in six patients from four families. A patient with the mutation 572_575delAATCins14 also manifested VATER association. This is the first case of aniridia accompanied by VATER association. All of mutations found in this study are frameshift type, resulting in premature termination of translation. The database for PAX6 gene mutation has been made using a graphical data display system MutationView ( http://mutview.dmb.med.keio.ac.jp/ ).
authors.affiliation: Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors.forename: Toshio
authors.initials: T
authors.lastname: Kawano
authors.affiliation: Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.|Medical Photobiology Department, Photon Medical Research Center, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431-3192, Japan.
authors.forename: Chunxia
authors.initials: C
authors.lastname: Wang
authors.affiliation: Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Hotta
authors.affiliation: Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors.forename: Miho
authors.initials: M
authors.lastname: Sato
authors.affiliation: Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Emi
authors.initials: E
authors.lastname: Iwata-Amano
authors.affiliation: Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Hikoya
authors.affiliation: Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Japan.
authors.forename: Naoya
authors.initials: N
authors.lastname: Fujita
authors.affiliation: Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Japan.
authors.forename: Norihisa
authors.initials: N
authors.lastname: Koyama
authors.affiliation: Department of Ophthalmology, Toyohashi Municipal Hospital, Toyohashi, Japan.
authors.forename: Shoichiro
authors.initials: S
authors.lastname: Shirai
authors.affiliation: Department of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Azuma
authors.affiliation: Medical Photobiology Department, Photon Medical Research Center, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431-3192, Japan.
authors.forename: Masafumi
authors.initials: M
authors.lastname: Ohtsubo
authors.affiliation: Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Nobuyoshi
authors.initials: N
authors.lastname: Shimizu
authors.affiliation: Medical Photobiology Department, Photon Medical Research Center, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431-3192, Japan. mino@hama-med.ac.jp.
authors.forename: Shinsei
authors.initials: S
authors.lastname: Minoshima
mesh_terms: D015783:Aniridia / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D016254:Mutagenesis, Insertional; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D017354:Point Mutation; D012097:Repressor Proteins / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins