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在一名无虹膜患者中报告的新型突变。

Novel mutation reported in an aniridia patient.

作者信息

Winegarner Andrew, Oie Yoshinori, Kawasaki Satoshi, Nishida Nozomi, Nishida Kohji

机构信息

Department of Ophthalmology, Osaka University Graduate School of Medicine, Osaka, Japan.

Department of Ophthalmology, Kansas University Medical Center, School of Medicine, Kansas City, KS, USA.

出版信息

Hum Genome Var. 2017 Dec 7;4:17053. doi: 10.1038/hgv.2017.53. eCollection 2017.

DOI:10.1038/hgv.2017.53
PMID:29238604
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5719187/
Abstract

An aniridia patient was found to have a novel mutation. A genetic duplication within , which caused a frameshift mutation, ultimately created a nonsense stop codon and premature truncation of the protein. Consequently, the patient presented with a clouded cornea as a result of partial limbal stem cell deficiency, foveal hypoplasia, nystagmus and a pale, cupped optic disc caused by glaucoma.

摘要

一名无虹膜患者被发现有一个新的突变。基因内部的重复导致了移码突变，最终产生了一个无义终止密码子，并使蛋白质过早截短。因此，该患者因部分角膜缘干细胞缺乏而出现角膜混浊，因青光眼导致黄斑发育不全、眼球震颤以及视盘苍白、凹陷。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8639/5719187/7936352e110e/hgv201753-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8639/5719187/9e1bc74116c3/hgv201753-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8639/5719187/7936352e110e/hgv201753-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8639/5719187/9e1bc74116c3/hgv201753-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8639/5719187/7936352e110e/hgv201753-f2.jpg

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本文引用的文献

1
Genotype-phenotype correlation of PAX6 gene mutations in aniridia.无虹膜症中PAX6基因突变的基因型-表型相关性
Hum Genome Var. 2016 Feb 11;3:15052. doi: 10.1038/hgv.2015.52. eCollection 2016.
2
Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families.突尼斯家族中无虹膜和先天性白内障的PAX6基因分子分析。
Hum Genome Var. 2014 Sep 4;1:14008. doi: 10.1038/hgv.2014.8. eCollection 2014.
3
Assessment of PAX6 alleles in 66 families with aniridia.对66个无虹膜家族的PAX6等位基因进行评估。
Clin Genet. 2016 Jun;89(6):669-77. doi: 10.1111/cge.12708. Epub 2016 Jan 25.
4
Aniridia: current pathology and management.无虹膜症：当前的病理学与治疗方法
Acta Ophthalmol. 2008 Nov;86(7):708-15. doi: 10.1111/j.1755-3768.2008.01427.x. Epub 2008 Oct 6.
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PAX6 mutations: genotype-phenotype correlations.PAX6突变：基因型与表型的相关性
BMC Genet. 2005 May 26;6:27. doi: 10.1186/1471-2156-6-27.
6
Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.无义介导的mRNA降解：剪接、翻译与mRNA核糖核蛋白动态变化
Nat Rev Mol Cell Biol. 2004 Feb;5(2):89-99. doi: 10.1038/nrm1310.
7
PAX6 mutation as a genetic factor common to aniridia and glucose intolerance.PAX6突变作为无虹膜症和葡萄糖不耐受的共同遗传因素。
Diabetes. 2002 Jan;51(1):224-30. doi: 10.2337/diabetes.51.1.224.
8
Truncated forms of Pax-6 disrupt lens morphology in transgenic mice.截短形式的Pax-6会破坏转基因小鼠的晶状体形态。
Invest Ophthalmol Vis Sci. 2000 Feb;41(2):464-73.
9
Ten novel mutations found in Aniridia.在无虹膜症中发现了10种新的突变。
Hum Mutat. 1998;12(5):304-13. doi: 10.1002/(SICI)1098-1004(1998)12:5<304::AID-HUMU3>3.0.CO;2-D.
10
Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants.PAX6反式激活区域的截短突变会导致显性负性突变体的产生。
J Biol Chem. 1998 Aug 21;273(34):21531-41. doi: 10.1074/jbc.273.34.21531.