Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation
作者: Grace M. WangLev PrasovHayder Al-HasaniColin E. R. MarrsSahil ToliaLaurel Wiinikka-BuesserJulia E. RichardsBrenda L. BohnsackJesús Pintor
作者单位: 1Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, The University of Michigan, Ann Arbor, MI 48105, USA
2Department of Epidemiology, The University of Michigan, Ann Arbor, MI 48109, USA
刊名: Journal of Ophthalmology, 2018, Vol.2018
来源数据库: Hindawi Journal
DOI: 10.1155/2018/5978293
原始语种摘要: Aniridia is a congenital disease that affects almost all eye structures and is primarily caused by loss-of-function mutations in the PAX6 gene. The degree of vision loss in aniridia varies and is dependent on the extent of foveal, iris, and optic nerve hypoplasia and the presence of glaucoma, cataracts, and corneal opacification. Here, we describe a 4-generation family in which 7 individuals across 2 generations carry a novel disease-causing frameshift mutation (NM_000280.4(PAX6):c.565TC>T) in PAX6. This mutation results in an early stop codon in exon 8, which is predicted to cause nonsense-mediated decay of the truncated mRNA and a functionally null PAX6 allele. Family members with aniridia showed differences in multiple eye phenotypes including iris and optic nerve hypoplasia,...
全文获取路径: Hindawi 
影响因子:1.368 (2012)

  • opacification 浑浊化
  • glaucoma 绿内障
  • corneal 角膜的
  • congenital 先天的
  • strabismus 斜视
  • acuity 敏锐
  • aniridia 无虹膜
  • hypoplasia 发育不全
  • nerve 叶脉
  • frameshift 移码