Three novel mutations of the PAX6 gene in Japanese aniridia patients.
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/ ).
Kawano
Toshio
T
Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Wang
Chunxia
C
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.
Hotta
Yoshihiro
Y
Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Sato
Miho
M
Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Iwata-Amano
Emi
E
Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Hikoya
Akiko
A
Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Fujita
Naoya
N
Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Japan.
Koyama
Norihisa
N
Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Japan.
Shirai
Shoichiro
S
Department of Ophthalmology, Toyohashi Municipal Hospital, Toyohashi, Japan.
Azuma
Noriyuki
N
Department of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan.
Ohtsubo
Masafumi
M
Medical Photobiology Department, Photon Medical Research Center, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431-3192, Japan.
Shimizu
Nobuyoshi
N
Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan.
Minoshima
Shinsei
S
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.
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
D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins