与自闭症谱系障碍相关的 CHD8、KMT2C、EP300 和 TCF4 基因变异病例报告

IF 1 Q4 GENETICS & HEREDITY Gene Reports Pub Date : 2024-10-30 DOI:10.1016/j.genrep.2024.102074
Hima J. Challa, Kalyan Ram Uppaluri, A.Sai. Rishika Gopikar, Rebecca Chalcedony, Srinivas Kethavath, K. Sri Manjari, K. Krishna Vardhani, Kalyani Palasamudram, Natya Kanuri, Aswini Korivepi
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引用次数: 0

摘要

自闭症谱系障碍(ASD)是一种复杂的神经发育疾病,受多种环境和遗传因素的影响。我们为您介绍一例患有自闭症谱系障碍、神经源性排尿功能障碍(NVD)、言语和发育迟缓以及多动的 7 岁男性患者。家族史包括近亲结婚和母亲智力残疾。全外显子组测序(WES)发现了CHD8(良性)、KMT2C(可能致病)以及EP300和TCF4(意义不确定)的母体遗传变异。尽管 CHD8 变异属于良性,但它与 ASD 的关联凸显了基因型与表型相关性的复杂性。可能致病的 KMT2C 框移突变以及 EP300 和 TCF4 的缺失表明,该患者的 ASD 具有多因素遗传基础。这些发现凸显了整合临床和基因数据对于准确诊断和个性化治疗的重要性。全外显子组测序(WES)分析显示,该患儿的母亲、舅舅和外祖父存在这些变异,其中舅舅未受ASD、ID或ADHD影响,这表明变异在疾病表现中可能存在相互作用。该病例强调了进一步研究的必要性,以阐明这些变异的综合效应,从而加深我们对 ASD 遗传结构的了解并改善临床结果。
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A case report on genetic variants in CHD8, KMT2C, EP300, and TCF4 associated with autism spectrum disorder
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition influenced by several environmental and genetic factors. We present a case of a 7-year-old male with ASD, neurogenic voiding dysfunction (NVD), speech and developmental delays, and hyperactivity, and current treatment includes speech, occupational, and behavioral therapy. Family history includes consanguinity and maternal intellectual disability. Whole-exome sequencing (WES) identified maternally inherited variants in CHD8 (benign), KMT2C (likely pathogenic), and EP300 and TCF4 (uncertain significance). Despite the benign classification of the CHD8 variant, its association with ASD highlights the complexity of genotype-phenotype correlations. The likely pathogenic KMT2C frameshift mutation and deletions in EP300 and TCF4 suggest a multifactorial genetic basis for ASD in this patient. These findings highlight the importance of integrating clinical and genetic data for accurate diagnosis and personalized treatment. Whole Exome Sequencing (WES) analysis revealed these variants in the child's mother, uncle, and maternal grandfather, with the maternal uncle unaffected by ASD, ID, or ADHD, indicating potential variant interplay in disease manifestation. This case emphasizes the need for further research to elucidate the combined effects of these variants, enhancing our understanding of ASD's genetic landscape and improving clinical outcomes.
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来源期刊
Gene Reports
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.
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