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首页> 外文期刊>International journal of molecular medicine >Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa
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Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa

机译:全末端测序鉴定了PROM1基因中的新型纯合的杂交突变,作为两种孢子性视网膜炎患者的致病性突变

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摘要

Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited retinal diseases caused by the loss of photoreceptors. The present study aimed to identify the gene mutations responsible for RP in two patients diagnosed with sporadic RP using next-generation sequencing technology. For this purpose, two patients with sporadic RP and family members (namely parents and siblings) were recruited into this study and underwent a complete ophthalmological assessment. Whole-exome sequencing (WES) was performed on genomic DNA samples isolated from peripheral leukocytes which had been obtained from the two patients diagnosed with sporadic RP. WES data were annotated and filtered against four public databases and one in-house database. Subsequently, Sanger sequencing was performed in order to determine whether any of the candidate variants co-segregated with the disease phenotype in the families. A homozygous frameshift mutation, c.1445dupT (p.F482fs) in exon 12 of the PROM1 gene (MIM: 604365), satisfied a recessive inheritance model and showed complete co-segregation of the mutation with the disease phenotype in the families. The same mutation was not detected in the 200 ethnically-matched control samples by Sanger sequencing. The novel homozygous mutation c.1445dupT (p.F482fs) in the PROM1 gene was identified as a causative mutation for RP. Thus, the identification of this mutation has further expanded the existing spectrum of PROM1 mutations in patients with RP, thereby assisting in the molecular diagnosis of RP and enhancing our understanding of genotype-phenotype correlations in order to provide effective genetic counseling.
机译:视网膜炎粒子(RP)是指由丧失光感受器丧失引起的遗传性视网膜疾病的异质组。本研究旨在鉴定使用下一代测序技术诊断偶发孢子RP的两名患者中RP的基因突变。为此目的,招募了两名零星RP和家庭成员(即父母和兄弟姐妹)的患者进入这项研究,并进行了完全的眼科评估。对从外周血白细胞分离的基因组DNA样品进行全外exome测序(WES),该样品是从诊断患有散发rp的两名患者获得的。 WES数据被注释并针对四个公共数据库和一个内部数据库过滤。随后,进行Sanger测序以确定是否有任何候选变体是否共同分离了家庭中的疾病表型。 PROM1基因的外显子12中的纯合的框架突变,C.1445dupt(P.F482FS)(MIM:604365),满足隐性遗传模型,并显示了家庭中疾病表型的完全共同分析。通过Sanger测序在200个方子匹配的对照样品中未检测到相同的突变。促销基因中的新型纯合突变C.1445dupt(p.f482FS)被鉴定为RP的致病突变。因此,该突变的鉴定进一步扩展了RP患者的PROM1突变的现有谱,从而协助RP的分子诊断并增强我们对基因型表型相关性的理解,以提供有效的遗传咨询。

著录项

  • 来源
  • 作者单位

    Hosp Univ Elect Sci &

    Technol China Dept Ophthalmol Chengdu Sichuan Peoples R China;

    Hosp Univ Elect Sci &

    Technol China Dept Gynecol &

    Obstet Chengdu Sichuan Peoples R China;

    Hosp Univ Elect Sci &

    Technol China Dept Gynecol &

    Obstet Chengdu Sichuan Peoples R China;

    Hosp Univ Elect Sci &

    Technol China Dept Gynecol &

    Obstet Chengdu Sichuan Peoples R China;

    Hosp Univ Elect Sci &

    Technol China Sichuan Prov Key Lab Human Dis Gene Study 32 Sect 2 Western;

    Hosp Univ Elect Sci &

    Technol China Sichuan Prov Key Lab Human Dis Gene Study 32 Sect 2 Western;

    Hosp Univ Elect Sci &

    Technol China Sichuan Prov Key Lab Human Dis Gene Study 32 Sect 2 Western;

    Hosp Univ Elect Sci &

    Technol China Sichuan Prov Key Lab Human Dis Gene Study 32 Sect 2 Western;

  • 收录信息
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 预防医学、卫生学;
  • 关键词

    retinitis pigmentosa; whole-exome sequencing; mutation; prominin 1;

    机译:视网膜炎pigmentosa;全外序列;突变;射门1;

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