Department of Clinical Genetics, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation.
Laboratory of Genomic Data Analysis, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation.
J Clin Pathol. 2024 Oct 20;77(11):756-760. doi: 10.1136/jcp-2023-208935.
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.
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 variants and 5 patients carrying variants). We explored the differences between phenotypes of patients carrying and pathogenic variants.
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 variants had earlier onset and more severe clinical manifestations compared with patients carrying variants.
Early diagnosis of TSC improves genetic counselling and perinatal management.
为了更好地了解早期筛查的益处，我们描述了在本中心产前或新生儿期诊断为结节性硬化症复合征（TSC）的胎儿和婴儿的临床和遗传特征。
在这项回顾性研究中，我们通过遗传标准分析了 1 名胎儿和 9 名婴儿的确诊 TSC 数据（5 名患者携带 变异，5 名患者携带 变异）。我们探讨了携带 和 致病性变异的患者表型之间的差异。
TSC 最常见的初始表现特征是十个患者中有九个出现心脏横纹肌瘤（CR）。除 CR 外，最常见的出生后特征是在五名患者中出现室管膜下结节，在四名患者中出现色素减退斑。本研究共检测到 10 种导致 TSC 的变异，包括 5 种新变异。我们表明，与携带 变异的患者相比，携带 变异的患者发病更早，临床表现更严重。
早期诊断 TSC 可改善遗传咨询和围产期管理。
