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HNRNPU

Gene product: Heterogeneous Nuclear Ribonucleoprotein U.

Protein function: It can form a ribonucleoprotein complex with heterogeneous nuclear RNA (hnRNA) in the cell nucleus and participate in RNA splicing and chromatin assembly[1].

Phenotype: Developmental and epileptic encephalopathy 54 (AD) [2-3].

Mutation database: ClinVar.

Clinical research: PubMed (PMID: 33914968 (Int J Dev Neurosci. 2021))

Medication reminder: The choice of medication is mainly based on the different epilepsy syndromes. There are case reports that some children’s epileptic seizures were controlled after taking valproate sodium [4-5].

 

References:

  1. The role of SAF-A/hnRNP U in regulating chromatin structure. Curr Opin Genet Dev. 2022 Feb:72:38-44.
  2. Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Hum Genet. 2017 Jul;136(7):821-834.
  3. HNRNPU: Key to Neurodevelopmental Disorders such as Intellectual Delay, Epilepsy, and Autism. Mol Syndromol. 2019 Jan;9(6):275-278.
  4. Analysis of a child with neurodevelopmental disorders due to variant of HNRNPU gene and a literature review. Zhonghua Yi Xue Yi Chuan Xue Za Zhi . 2024 Jan 10;41(1):86-91.
  5. 赵珊,张晨月,严晓晗,等.HNRNPU基因杂合突变致发育性和癫痫性脑病54型1例报道[J].中国优生与遗传杂志,2024,32(06):1255-1259.