CASK

基因产物：钙/钙调素依赖性丝氨酸蛋白激酶。

蛋白功能：属于膜相关鸟苷酸激酶（membrane associated guanylate kinase，MAGUK）家族的一个重要成员，可作为支架蛋白参与细胞膜蛋白骨架的构建，另在突触跨膜蛋白锚定和离子通道运输中起到一定作用，此外通过与转录因子TBR1的相互作用参与神经发育和调节基因的表达。

相关疾病：FG综合征4型[1]；智力低下和小头畸形伴脑桥和小脑发育不全（XLD）[2]；精神发育迟滞伴或不伴有眼球震颤[3-4]；大田原综合征[5]；West 综合征[6]。

突变数据库：ClinVar数据库。

相关临床研究：PubMed数据库（PMID: 33640666 (Eur J Paediatr Neurol. 2021)）

讨论版块：点击进入CASK基因突变讨论版块。

参考文献

1. Piluso, G., et al., A missense mutation in CASK causes FG syndrome in an Italian family. Am J Hum Genet, 2009. 84(2): p. 162-77.
2. Najm, J., et al., Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet, 2008. 40(9): p. 1065-7.
3. Tarpey, P.S., et al., A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet, 2009. 41(5): p. 535-43.
4. Hackett, A., et al., CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet, 2010. 18(5): p. 544-52.
5. Saitsu, H., et al., CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. Epilepsia, 2012. 53(8): p. 1441-9.

6. Studtmann, C., L.E.W. LaConte, and K. Mukherjee, Comments on: A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient. Am J Med Genet A, 2019. 179(12): p. 2514-2516.