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SMC1A

Gene product: Structural Maintenance Of Chromosomes 1A.

Protein function: It plays an important role in regulating sister chromatid aggregation and separation, maintaining chromosome structure, and regulating gene transcription and DNA repair [1].

Phenotype: Cornelia de Lange syndrome (CdLS) (XLD) [2]; developmental epileptic encephalopathy type 85 with or without midline defects (XLD) (most seizures are clustered, and some may present as Epilepsy Of Infancy With Migrating Focal Seizures) [3-5].

Mutation database: ClinVar.

Clinical research: PubMed（PMID: 37107610 (Genes (Basel). 2023); PMID: 28166369 (Epilepsia. 2017)）

Medication reminder: The medication is mainly selected according to the different epilepsy syndromes. Most of them are refractory to anti-epileptic drugs. There are case reports that some patients have a certain effect on adding a ketogenic diet (there are also reports of poor effects) [6-7].

 

References:

  1. Diverse developmental disorders from the one ring: distinct molecular pathways underlie the cohesinopathies. Front Genet. 2012 Sep 12:3:171.
  2. Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. Am J Med Genet A. 2010 Aug;152A(8):2127-9.
  3. Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. Eur J Med Genet. 2015 Oct;58(10):562-8.
  4. De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. Clin Genet. 2016 Nov;90(5):413-419.
  5. Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype. Epilepsia. 2017 Jul;58(7):1301-1302.
  6. Phenotypic spectrum and long-term outcome of children with genetic early-infantile-onset developmental and epileptic encephalopathy. Epileptic Disord. 2022 Apr 1;24(2):343-352.
  7. 叶园珍,段婧,胡湛棋,et al. SMC1A基因截短变异相关发育性癫痫性脑病85型患儿4例并文献复习[J].中华儿科杂志, 2022, 60(6):5.