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遗传与分子基础特刊专论

Editorial on the Special Issue "Genetic and Molecular Basis of Inherited Disorders".

机构信息

Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.

Department of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy.

出版信息

Genes (Basel). 2024 Sep 27;15(10):1259. doi: 10.3390/genes15101259.

Abstract

This Special Issue of , titled "Genetic and Molecular Basis of Inherited Disorders", presents a collection of pioneering research articles that advance our understanding of the genetic mechanisms underlying various hereditary diseases. The studies employ cutting-edge genomic techniques, including next-generation sequencing and genome-wide association studies, to elucidate novel genetic variants and their functional implications. Key investigations span a diverse range of conditions, from congenital idiopathic nystagmus and hereditary hearing loss to familial hypercholesterolemia and rare cancer predisposition syndromes. Notable findings include the identification of new gene-disease associations in congenital anomalies of the kidney and urinary tract, the discovery of large genomic rearrangements in breast cancer susceptibility, and insights into the genetic basis of pigmentary traits and associated disease risks. This Special Issue also highlights the significance of copy number variations and rare structural variants in disease pathogenesis. Collectively, these studies underscore the complexity of genetic variation in inherited disorders and demonstrate the critical role of integrating advanced genetic analyses with clinical practice to enhance diagnostic precision and develop targeted therapeutic approaches.

摘要

本期《 》特刊的主题为“遗传性疾病的遗传和分子基础”,收录了一系列开创性的研究文章,这些文章增进了我们对各种遗传性疾病遗传机制的理解。这些研究采用了前沿的基因组技术,包括下一代测序和全基因组关联研究,以阐明新的遗传变异及其功能意义。重点研究涵盖了从先天性特发性眼球震颤和遗传性听力损失到家族性高胆固醇血症和罕见癌症易感性综合征等多种疾病。值得注意的发现包括在肾脏和泌尿道先天性异常中确定新的基因-疾病关联、在乳腺癌易感性中发现大型基因组重排,以及深入了解色素性状和相关疾病风险的遗传基础。本特刊还强调了拷贝数变异和罕见结构变异在疾病发病机制中的重要性。总的来说,这些研究强调了遗传性疾病中遗传变异的复杂性,并展示了将先进的遗传分析与临床实践相结合以提高诊断精度和开发靶向治疗方法的重要性。

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本文引用的文献

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Gene Alterations in a Pakistani Family Associated with Congenital Idiopathic Nystagmus.
Genes (Basel). 2023 Jan 29;14(2):346. doi: 10.3390/genes14020346.
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New Insights into the Identity of the DFNA58 Gene.
Genes (Basel). 2022 Dec 2;13(12):2274. doi: 10.3390/genes13122274.
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Missense Variants in and Are Associated with Congenital Anomalies of the Kidney and Urinary Tract.
Genes (Basel). 2022 Sep 21;13(10):1687. doi: 10.3390/genes13101687.

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