Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series.

IF 2.5 4区医学 Q2 PATHOLOGY

Journal of Clinical Pathology Pub Date : 2024-10-20 DOI:10.1136/jcp-2023-208935

Anna S Bolshakova, Dmitry N Maslennikov, Jekaterina Shubina, Andrey A Bystritskiy, Ekaterina R Tolmacheva, Irina S Mukosey, Taisiya O Kochetkova, Grigory S Vasiliev, Ekaterina E Atapina, Igor O Sadelov, Nadezhda V Zaretskaya, Ilya Yu Barkov, Dmitry N Degtyarev, Dmitry Yu Trofimov

{"title":"Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series.","authors":"Anna S Bolshakova, Dmitry N Maslennikov, Jekaterina Shubina, Andrey A Bystritskiy, Ekaterina R Tolmacheva, Irina S Mukosey, Taisiya O Kochetkova, Grigory S Vasiliev, Ekaterina E Atapina, Igor O Sadelov, Nadezhda V Zaretskaya, Ilya Yu Barkov, Dmitry N Degtyarev, Dmitry Yu Trofimov","doi":"10.1136/jcp-2023-208935","DOIUrl":null,"url":null,"abstract":"Objective: We describe the clinical and genetic characteristics of fetuses and infants diagnosed with tuberous sclerosis complex (TSC) in our centre, prenatally or neonatally, for a better understanding of the benefits of early screening.Methods: In this retrospective study, we analysed the data on one fetus and nine infants with a definitive TSC diagnosis by genetic criteria (five patients carrying TSC1 variants and 5 patients carrying TSC2 variants). We explored the differences between phenotypes of patients carrying TSC1 and TSC2 pathogenic variants.Results: The most common initial presenting features of TSC were cardiac rhabdomyomas (CRs) that were observed in nine out of ten patients. The most common postnatal features, besides CR, were presented with subependymal nodules-in five patients, and hypomelanotic macules-in four patients. In total, 10 variants causing TSC were detected in this study, including 5 novel variants. We demonstrated that patients with TSC2 variants had earlier onset and more severe clinical manifestations compared with patients carrying TSC1 variants.Conclusion: Early diagnosis of TSC improves genetic counselling and perinatal management.","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"756-760"},"PeriodicalIF":2.5000,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1136/jcp-2023-208935","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PATHOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Objective: We describe the clinical and genetic characteristics of fetuses and infants diagnosed with tuberous sclerosis complex (TSC) in our centre, prenatally or neonatally, for a better understanding of the benefits of early screening.

Methods: In this retrospective study, we analysed the data on one fetus and nine infants with a definitive TSC diagnosis by genetic criteria (five patients carrying TSC1 variants and 5 patients carrying TSC2 variants). We explored the differences between phenotypes of patients carrying TSC1 and TSC2 pathogenic variants.

Results: The most common initial presenting features of TSC were cardiac rhabdomyomas (CRs) that were observed in nine out of ten patients. The most common postnatal features, besides CR, were presented with subependymal nodules-in five patients, and hypomelanotic macules-in four patients. In total, 10 variants causing TSC were detected in this study, including 5 novel variants. We demonstrated that patients with TSC2 variants had earlier onset and more severe clinical manifestations compared with patients carrying TSC1 variants.

Conclusion: Early diagnosis of TSC improves genetic counselling and perinatal management.

查看原文本刊更多论文

胎儿和婴儿结节性硬化症复合体的分子诊断：机构病例系列。

研究目的我们描述了本中心在产前或新生儿期诊断为结节性硬化综合征（TSC）的胎儿和婴儿的临床和遗传特征，以便更好地了解早期筛查的益处：在这项回顾性研究中，我们分析了1名胎儿和9名通过基因标准确诊为TSC的婴儿（5名携带TSC1变体，5名携带TSC2变体）的数据。我们探讨了携带TSC1和TSC2致病变体患者的表型差异：TSC最常见的最初表现特征是心脏横纹肌瘤（CRs），10名患者中有9名出现了这种情况。除CR外，最常见的产后特征是5名患者出现脐下结节，4名患者出现黑斑。本研究共检测到10个导致TSC的变异基因，其中包括5个新型变异基因。我们发现，与携带TSC1变异体的患者相比，携带TSC2变异体的患者发病更早，临床表现更严重：结论：TSC的早期诊断可改善遗传咨询和围产期管理。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Journal of Clinical Pathology 医学-病理学

CiteScore

7.80

自引率

2.90%

发文量

113

审稿时长

3-8 weeks

期刊介绍： Journal of Clinical Pathology is a leading international journal covering all aspects of pathology. Diagnostic and research areas covered include histopathology, virology, haematology, microbiology, cytopathology, chemical pathology, molecular pathology, forensic pathology, dermatopathology, neuropathology and immunopathology. Each issue contains Reviews, Original articles, Short reports, Correspondence and more.