结节性硬化症 (TSC) 是一种常染色体显性遗传性神经皮肤综合征，由肿瘤抑制基因 TSC1 和 TSC2 突变引起。不幸的是，缺乏准确的诊断严重影响了患者及其家人的福祉。此外，众多变异的致病性尚未得到证实，这可能会导致对其功能意义的误解。先证者1是一名33岁的中国男性，该患者表现为多个器官系统错构瘤，并伴有智力、智力等临床症状。残疾、癫痫和脂质腺瘤。患者及其家属采用靶向二代测序和桑格测序鉴定致病变异，鉴定出TSC1（c.2923G>T，c.2924C>T）变异，诊断患者患有TSC病。确诊后，给予丙戊酸、奥卡西平及各种器官支持治疗。目前患者智力下降，多发性皮脂腺瘤，背部多发纤维结节，右肋下及中上腹可扪及包块，右肾区叩击痛，每月癫痫发作 1 至 2 次，智力比同龄人差。这一发现强化了与 TSC 相关的显着表型变异性，并扩大了这种罕见疾病的突变谱。版权所有 © 2024 作者。由 Wolters Kluwer Health, Inc. 出版

Tuberous sclerosis (TSC) is an autosomal dominant neurocutaneous syndrome resulting from mutations in the tumor suppressor genes TSC1 and TSC2. Unfortunately, the absence of accurate diagnosis has significantly impacted the well-being of both patients and their families. Furthermore, the pathogenicity of numerous variants remains unverified, which could potentially result in misinterpretation of their functional implications.Proband 1 was a 33-year-old Chinese male, this patient presents with hamartomas in multiple organ systems, accompanied by clinical symptoms such as intellectual disability, epilepsy, and lipid adenoma. The patient and their family members used targeted next-generation sequencing and Sanger sequencing to identify the pathogenic variant.The TSC1 (c.2923G>T, c.2924C>T) variant was identified and the patient was diagnosed with TSC disease.After the definite diagnosis, the patient was treated with valproic acid, oxcarbazepine, and various organ supports.At present, the patient has intellectual decline, multiple sebaceous adenomas, multiple fiber nodules on the back, palpable mass in the right subcostal and middle upper abdomen, and percussion pain in the right kidney area, 1 to 2 times a month seizure, poor intelligence than peers.This finding strengthens the significant phenotypic variability associated with TSC and expands the mutational spectrum of this rare disease.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.