简体中文

ARX

基因产物：ARX（aristaless-related homeobox）蛋白。

蛋白功能：正常大脑发育所需的转录因子，可能对维持大脑皮层的特定神经元亚型和底板的轴突导向很重要。

相关疾病：发育性癫痫性脑病1型（XLR）（部分可表现为大田原综合征[1]；婴儿癫痫性痉挛综合征[2]）；积水性无脑畸形伴外生殖器异常（XL）；X连锁无脑回畸形（XL）[3]；X连锁精神发育迟滞（XLR）[4]；Partington综合征（XLR）[5]；Proud综合症（XL）[6]。

突变数据库：ClinVar数据库。

用药提醒：主要根据癫痫综合征用药，常为抗癫痫发作药物难治性。另有个案报道一患者对磷酸吡哆醛表现出完全但短暂的反应（完全控制6个月后又复发，后续又有被使用丙戊酸钠控制）[7]。

讨论版块：点击进入ARX基因突变讨论版块。

 

参考文献

  1. Giordano, L., et al., Familial Ohtahara syndrome due to a novel ARX gene mutation.Am J Med Genet A, 2010.152A(12): p. 3133-7.
  2. Stromme, P., et al., Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.Brain Dev, 2002. 24(5): p. 266-8.
  3. Kato, M., et al., Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.Hum Mutat, 2004. 23(2): p. 147-59.
  4. Bienvenu, T., et al., ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.Hum Mol Genet, 2002. 11(8): p. 981-91.
  5. Gronskov, K., et al., Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.Eur J Med Genet, 2014. 57(6): p. 284-7.
  6. Proud, V.K., C. Levine, and N.J. Carpenter, New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.Am J Med Genet, 1992. 43(1-2): p. 458-66.
  7. ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV. Brain Dev. 2019 Nov;41(10):883-887.