Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa

Yang Mu; Li Shujin; Liu WenjingYang YemingZhang LinZhang ShanshanJiang ZhilinYang ZhenglinZhu Xianjun

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Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa

机译：新一代测序揭示了一个目标小说在MERTK基因移码突变中国家庭和色素性视网膜炎

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Background: Retinitis pigmentosa (RP) is a group of inherited retinal diseases that result in severe progressive visual impairment. Aims: The purpose of this article was to apply targeted next-generation sequencing (NGS) to identify the causative mutation in a Chinese RP family. Methods: Blood samples were collected from a Chinese proband diagnosed with RP and her family members. A total of 163 genes that have been previously found to be involved in inherited retinal diseases were selected for NGS. Rigorous NGS data analysis; Sanger sequencing validation; and segregation analysis were applied to evaluate a novel frameshift mutation. Results: Sequence analysis revealed that the proband and her affected sister both carried a novel homozygous frameshift mutation in MERTK (p.I103Nfs*4). Other family members carrying a heterozygous mutation were unaffected. This mutation was found to cosegregate with the disease phenotype in this family. This mutation was not found in 1,000 control individuals. Conclusions: The targeted NGS strategy employed provides an efficient tool for RP pathogenic gene detection. This study identified a new autosomal recessive mutation in the RP-related gene MERTK, which expands the spectrum of RP disease-causing mutations.

机译：背景:视网膜色素变性(RP)是一组导致的遗传性视网膜疾病严重的进行性视力损害。本文的目的是应用目标新一代测序(上天)来识别致病突变在中国RP的家庭。方法:收集的血液样本中国渊源者诊断为RP和她的家人成员。之前发现参与继承视网膜疾病是上天选定。门店数据分析;和隔离分析应用于评估一种新颖的移码突变。分析显示,渊源者和她姐姐都带着一本小说纯合的影响移码突变在MERTK (p.I103Nfs * 4)。家庭成员携带一个杂合的突变未受影响。cosegregate与疾病表型家庭。控制个人。门店战略提供了一个有效的工具RP致病基因检测。发现了一个新的常染色体隐性突变RP-related基因MERTK,扩展了光谱的RP致病突变。

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来源
《Genetic testing and molecular biomarkers》 |2018年第3期|165-169|共5页
作者
Yang Mu; Li Shujin; Liu WenjingYang YemingZhang LinZhang ShanshanJiang ZhilinYang ZhenglinZhu Xianjun;
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作者单位

Chinese Acad Sci, Chengdu Inst Biol, Chengdu, Sichuan, Peoples R China;

Sichuan Acad Med Sci, Key Lab Human Dis Gene Study, Chengdu 610072, Sichuan, Peoples R China;

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Autosomal recessive retinitis pigmentosa; Frameshift Mutation; next generation sequencingCone-Rod Dystrophy 2GeneticsMutationFamily MembersprobandAnalyses, Sequencesegregation analysisChinese philosophyChinese art;

机译：常染色体隐性视网膜炎眼点,移码突变;下一代sequencingCone-Rod萎缩症2 geneticsmutationfamily MembersprobandAnalyses,Sequencesegregation analysisChinese;

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Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa

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