Biallelic variants in TMIE and PDE6B genes mimic Usher syndrome

IF 1 Q4 GENETICS & HEREDITY Gene Reports Pub Date : 2024-06-12 DOI:10.1016/j.genrep.2024.101954

Samia Abdi , Mohamed Makrelouf , Issa Nazim Rous , Kheireddine Ounnoughi , Akila Zenati , Christine Petit , Crystel Bonnet

引用次数: 0

Abstract

In the case of consanguineous families, comorbidity cannot be ruled out. Here, we reported a child of eleven years-old who presented profound congenital hearing impairment and progressive visual defect who was suspected to have Usher syndrome. We searched for mutations in Usher syndrome genes but we failed to detect any. We then performed whole exome sequencing to identify the causality of their phenotype. Interestingly, we found two homozygous missense variants, p.(Arg84Trp) in TMIE, responsible for deafness and p.(His337Arg) in PDE6B, responsible for retinitis pigmentosa. The combination of both variants mimics Usher syndrome. This article highlights the importance of genetics in avoiding clinical misdiagnosis, which is important for genetic counseling and in the perspective of gene therapy.

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TMIE 和 PDE6B 基因的双叶变体可模拟乌谢尔综合征

在近亲结婚的家庭中，不能排除合并症的可能性。在此，我们报告了一名 11 岁儿童的病例，该患儿表现为严重的先天性听力障碍和进行性视力缺陷，被怀疑患有乌谢尔综合征。我们搜索了乌谢尔综合征基因的突变，但没有发现任何突变。随后，我们进行了全外显子组测序，以确定其表型的因果关系。有趣的是，我们发现了两个同卵错义变异：TMIE 的 p.（Arg84Trp）负责耳聋，PDE6B 的 p.（His337Arg）负责视网膜色素变性。这两种变异体的结合会模拟出乌谢尔综合征。这篇文章强调了遗传学在避免临床误诊方面的重要性，这对遗传咨询和基因治疗都很重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.