先天性鱼鳞病诊断中的基因检测和新变异。

IF 1.5 4区医学 Q4 GENETICS & HEREDITY Molecular Genetics & Genomic Medicine Pub Date : 2024-08-01 DOI:10.1002/mgg3.70000

Milja Salo, Teija Kimpimäki, Heini Huhtala, Tanja Saarela

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引用次数: 0

摘要

背景：本研究旨在评估2000-2020年间先天性鱼鳞病诊断方法的演变情况，以及发现了哪些先天性鱼鳞病基因变异：这项以登记为基础的研究共包括88名患者，在2000-2020年间，坦佩雷大学医院皮肤科和临床遗传学部对这些患者进行了诊断检测，并确定了鱼鳞病诊断结果：结果：33例鱼鳞病患者通过基因检测确诊为鱼鳞病，55例患者通过临床表现、皮肤活检和家族鱼鳞病史等传统诊断方法确诊为鱼鳞病。我们在临床诊断为先天性鱼鳞病的患者中观察到四种新型变异：结论：当基因检测可用时，它主要提供给严重鱼鳞病患者。在研究期间，新一代测序技术已成为首选的基因检测方法，为诊断提供了新的机遇。

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Genetic testing and new variants in diagnosis of congenital ichthyoses.

Background: The aim of this study was to evaluate how diagnostic practice in congenital ichthyoses has evolved during the years 2000-2020 and what kind of gene variants of congenital ichthyosis have been found.

Methods: The study cohort of this register-based research consisted of a total of 88 patients, whose diagnostic testing was conducted, and ichthyosis diagnoses set at the Department of Dermatology and the Department of Clinical Genetics at Tampere University Hospital during the years 2000-2020.

Results: Diagnosis of ichthyosis was confirmed with genetic testing in 33 cases, and with conventional diagnostic methods, such as clinical findings, skin biopsy and family history of ichthyoses, in 55 cases. We observed four novel variants in patients with the clinical diagnoses of congenital ichthyoses.

Conclusion: When genetic testing became available, it was offered primarily to patients with severe forms of ichthyosis. During the study period next-generation sequencing became the genetic testing method of choice providing new opportunities in diagnostics.

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来源期刊

Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

4.20

自引率

0.00%

发文量

241

审稿时长

14 weeks

期刊介绍： Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.