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一个导致先天性白内障和罕见成人I血型表型的新突变的多效性效应。

Pleiotropic effect of a novel mutation in causing congenital cataract and a rare adult i blood group phenotype.

作者信息

Cheong Sek-Shir, Hull Sarah, Jones Benjamin, Chana Ravinder, Thornton Nicole, Plagnol Vincent, Moore Anthony T, Hardcastle Alison J

机构信息

UCL Institute of Ophthalmology , London, UK.

Moorfields Eye Hospital , London, UK.

出版信息

Hum Genome Var. 2017 Feb 16;4:17004. doi: 10.1038/hgv.2017.4. eCollection 2017.

DOI:10.1038/hgv.2017.4
PMID:28224043
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5311056/
Abstract

Mutations in have been associated with the rare adult i blood group phenotype with or without congenital cataract. We report a novel homozygous frameshift mutation c.1163_1166delATCA, p.(Asn388Argfs*20) as the cause of congenital cataract in two affected siblings. Blood group typing confirmed that both affected males have the rare adult i phenotype, supporting the hypothesis that the partial association of I/i phenotype and congenital cataract is due to the differential expression of isoforms.

摘要

基因的突变与罕见的成人i血型表型有关，该表型可伴有或不伴有先天性白内障。我们报告了一种新的纯合移码突变c.1163_1166delATCA，p.(Asn388Argfs*20)，它是两名患病同胞先天性白内障的病因。血型分型证实，两名患病男性均具有罕见的成人i表型，支持了I/i表型与先天性白内障部分关联是由于同工型差异表达的假说。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/074b/5311056/16250001fa22/hgv20174-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/074b/5311056/0ae4dbabf786/hgv20174-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/074b/5311056/16250001fa22/hgv20174-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/074b/5311056/0ae4dbabf786/hgv20174-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/074b/5311056/16250001fa22/hgv20174-f2.jpg

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本文引用的文献

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Causes of certifications for severe sight impairment (blind) and sight impairment (partial sight) in children in England and Wales.英格兰和威尔士导致儿童重度视力损害（盲）和视力损害（部分视力）的原因。
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外显子测序实验中读取计数数据的稳健模型及其对拷贝数变异calling 的影响。
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Hum Genet. 2012 Feb;131(2):209-16. doi: 10.1007/s00439-011-1062-1. Epub 2011 Jul 15.
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Hematologic biomarkers in childhood cataracts.儿童白内障中的血液学生物标志物。
Mol Vis. 2011 Apr 24;17:1011-5.
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X-linked cataract and Nance-Horan syndrome are allelic disorders.X连锁白内障和南斯-霍兰综合征是等位基因疾病。
Hum Mol Genet. 2009 Jul 15;18(14):2643-55. doi: 10.1093/hmg/ddp206. Epub 2009 May 4.
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Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).常染色体显性白内障、小角膜和角膜混浊的临床变异性以及αA晶状体蛋白基因（CRYAA）的新突变
Am J Med Genet A. 2008 Apr 1;146A(7):833-42. doi: 10.1002/ajmg.a.32236.
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