简体中文

SETD1B

基因产物：含SET域1B，组蛋白赖氨酸甲基转移酶。

蛋白功能：可介导组蛋白H3赖氨酸4（H3K4）位点的甲基化，从而在基因转录的表观遗传调控中发挥作用[1]。

相关疾病：智力发育障碍伴癫痫和语言发育迟缓（AD）（部分可表现为肌阵挛失神癫痫、眼睑肌阵挛性癫痫（Jeavons综合征）、Lennox-Gastaut 综合征、进行性肌阵挛癫痫）[2-5]。

突变数据库：ClinVar数据库。

相关临床研究：PubMed数据库（PMID: 34345025 (Genet Med. 2021)；39765123 (Eur J Paediatr Neurol. 2025)）

用药提醒：主要根据不同的癫痫综合征来选择用药，目前已报道的如丙戊酸钠、左乙拉西坦、拉莫三嗪、苯巴比妥、硝西泮等药物对部分患儿治疗有效，另也有部分患儿对多种药物治疗效果都欠佳[3-10]，此外根据该基因整体所导致的一些癫痫综合征类型以及癫痫发作类型来看，尽量避免选用一些窄谱的钠通道阻滞剂（如卡马西平、奥卡西平），有可能反而会加重（个人观点，仅供参考）。

讨论版块：点击进入SETD1B基因突变讨论版块。

 

参考文献

  1. De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism. Hum Genet. 2018 Jan;137(1):95-104.
  2. SETD1B-associated neurodevelopmental disorder. J Med Genet. 2021 Mar;58(3):196-204.
  3. De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences. Epilepsia Open. 2019 May 24;4(3):476-481.
  4. SETD1B variants associated with absence seizures. Eur J Paediatr Neurol. 2025 Jan:54:68-74.
  5. Epilepsy with eyelid myoclonia with atonic seizures and generalized paroxysmal fast activity: A novel electroclinical phenotype associated with SETD1B pathogenic variant. Epileptic Disord. 2024 Apr;26(2):250-253.
  6. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 Nov;23(11):2122-2137.
  7. A novel de novo frameshift variant in SETD1B causes epilepsy. J Hum Genet. 2019 Aug;64(8):821-827.
  8. SETD1B-associated neurodevelopmental disorder. J Med Genet. 2021 Mar;58(3):196-204.
  9. Mental retardation, seizures and language delay caused by new SETD1B mutations: Three case reports. World J Clin Cases. 2024 Jan 16;12(2):383-391.
  10. Phenotypic spectrum of SETD1B-related disorder: Myoclonic absence seizures and concurrent intellectual disability - Insights from two cases. Seizure. 2024 Jan:114:57-60.