遗传性皮肤病的基因检测与新型变异体诊断。
Genetic testing and new variants in diagnosis of congenital ichthyoses.
机构信息
Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Department of Dermatology, Tampere University Hospital, Tampere, Finland.
出版信息
Mol Genet Genomic Med. 2024 Aug;12(8):e70000. doi: 10.1002/mgg3.70000.
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.
背景
本研究旨在评估 2000 年至 2020 年期间先天性鱼鳞病的诊断实践如何演变，以及发现了哪些类型的先天性鱼鳞病基因突变。
方法
本注册研究的研究队列包括总共 88 名患者，他们的诊断检测是在 2000 年至 2020 年期间在坦佩雷大学医院皮肤科和临床遗传学系进行的，并在此期间做出了鱼鳞病的诊断。
结果
在 33 例患者中通过基因检测确认了鱼鳞病的诊断，在 55 例患者中通过临床发现、皮肤活检和鱼鳞病家族史等常规诊断方法进行了诊断。我们在临床诊断为先天性鱼鳞病的患者中观察到了四个新的变异。
结论
当基因检测可用时，主要向患有严重鱼鳞病的患者提供。在研究期间，下一代测序成为了首选的基因检测方法，为诊断提供了新的机会。
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