Literature DB >> 17568989

Three novel mutations of the PAX6 gene in Japanese aniridia patients.

Toshio Kawano1, Chunxia Wang1,2, Yoshihiro Hotta1, Miho Sato1, Emi Iwata-Amano3, Akiko Hikoya1, Naoya Fujita4, Norihisa Koyama4, Shoichiro Shirai5, Noriyuki Azuma6, Masafumi Ohtsubo2, Nobuyoshi Shimizu7, Shinsei Minoshima8.   

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/ ).

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Year:  2007        PMID： 17568989     DOI： 10.1007/s10038-007-0153-2

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


  12 in total

1.  A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.

Authors:  S Sonoda; Y Isashiki; Y Tabata; K Kimura; T Kakiuchi; N Ohba
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2000-07       Impact factor: 3.117

2.  Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.

Authors:  Noriyuki Azuma; Yuki Yamaguchi; Hiroshi Handa; Keiko Tadokoro; Atsuko Asaka; Eriko Kawase; Masao Yamada
Journal:  Am J Hum Genet       Date:  2003-04-29       Impact factor: 11.025

3.  PAX6 mutation as a genetic factor common to aniridia and glucose intolerance.

Authors:  Tetsuyuki Yasuda; Yoshitaka Kajimoto; Yoshio Fujitani; Hirotaka Watada; Shuji Yamamoto; Takao Watarai; Yutaka Umayahara; Munehide Matsuhisa; Shin-ichi Gorogawa; Yasuaki Kuwayama; Yasuo Tano; Yoshimitsu Yamasaki; Masatsugu Hori
Journal:  Diabetes       Date:  2002-01       Impact factor: 9.461

4.  PAX6 missense mutation in isolated foveal hypoplasia.

Authors:  N Azuma; S Nishina; H Yanagisawa; T Okuyama; M Yamada
Journal:  Nat Genet       Date:  1996-06       Impact factor: 38.330

5.  VACTERL with the mitochondrial np 3243 point mutation.

Authors:  M S Damian; P Seibel; W Schachenmayr; H Reichmann; W Dorndorf
Journal:  Am J Med Genet       Date:  1996-04-24

6.  Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.

Authors:  N Azuma; Y Yamaguchi; H Handa; M Hayakawa; A Kanai; M Yamada
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

7.  Familial aniridia with preserved ocular function.

Authors:  F J Elsas; I H Maumenee; K R Kenyon; F Yoder
Journal:  Am J Ophthalmol       Date:  1977-05       Impact factor: 5.258

8.  Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.

Authors:  T Glaser; D S Walton; R L Maas
Journal:  Nat Genet       Date:  1992-11       Impact factor: 38.330

Review 9.  PAX6 in sensory development.

Authors:  Veronica van Heyningen; Kathleen A Williamson
Journal:  Hum Mol Genet       Date:  2002-05-15       Impact factor: 6.150

Review 10.  PAX6 mutations reviewed.

Authors:  J Prosser; V van Heyningen
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878
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  2 in total

1.  A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract.

Authors:  Fucheng Cai; Jianfang Zhu; Wen Chen; Tie Ke; Fang Wang; Xin Tu; Ying Zhang; Runming Jin; Xiaoyan Wu
Journal:  Mol Vis       Date:  2010-06-22       Impact factor: 2.367

2.  Mutation analysis of paired box 6 gene in inherited aniridia in northern China.

Authors:  Peng Chen; Xinjie Zang; Dapeng Sun; Ye Wang; Yao Wang; Xiaowen Zhao; Mohan Zhang; Lixin Xie
Journal:  Mol Vis       Date:  2013-05-30       Impact factor: 2.367
  2 in total

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