A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2

Hata Y, Butz S, Sudhof TC. CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins. J Neurosci. 1996;16:2488–94.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi 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;40:1065–7.

Article  CAS  PubMed  Google Scholar 

Piluso G, D’Amico F, Saccone V, Bismuto E, Rotundo IL, Di Domenico M, et al. A missense mutation in CASK causes FG syndrome in an Italian family. Am J Hum Genet. 2009;84:162–77.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet. 2009;41:535–43.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Giacomini T, Nuovo S, Zanni G, Mancardi MM, Cusmai R, Pepi C, et al. CASK related disorder: Epilepsy and developmental outcome. Eur J Paediatr Neurol. 2021;31:61–9.

Article  CAS  PubMed  Google Scholar 

Zhang Y, Nie Y, Mu Y, Zheng J, Xu X, Zhang F, et al. A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review. Ital J Pediatr. 2022;48:73.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kaneda Y, Yoshida MC, Kohno K, Uchida T, Okada Y. Chromosomal assignment of the gene for human elongation factor 2. Proc Natl Acad Sci USA. 1984;81:3158–62.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kohno K, Uchida T, Ohkubo H, Nakanishi S, Nakanishi T, Fukui T, et al. Amino acid sequence of mammalian elongation factor 2 deduced from the cDNA sequence: homology with GTP-binding proteins. Proc Natl Acad Sci USA. 1986;83:4978–82.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dever TE, Dinman JD, Green R. Translation elongation and recoding in eukaryotes. Cold Spring Harb Perspect Biol. 2018;10:a032649.

Article  PubMed  PubMed Central  Google Scholar 

Hekman KE, Yu GY, Brown CD, Zhu H, Du X, Gervin K, et al. A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Hum Mol Genet. 2012;21:5472–83.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nabais SaMJ, Olson AN, Yoon G, Nimmo GAM, Gomez CM, Willemsen MA, et al. De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus. Hum Mol Genet. 2021;29:3892–9.

Article  Google Scholar 

Jorgensen R, Carr-Schmid A, Ortiz PA, Kinzy TG, Andersen GR. Purification and crystallization of the yeast elongation factor eEF2. Acta Crystallogr D Biol Crystallogr. 2002;58:712–5.

Article  PubMed  Google Scholar 

Harger JW, Dinman JD. An in vivo dual-luciferase assay system for studying translational recoding in the yeast Saccharomyces cerevisiae. RNA. 2003;9:1019–24.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jacks T, Power MD, Masiarz FR, Luciw PA, Barr PJ, Varmus HE. Characterization of ribosomal frameshifting in HIV-1 gag-pol expression. Nature. 1988;331:280–3.

Article  CAS  PubMed  Google Scholar 

Belcourt MF, Farabaugh PJ. Ribosomal frameshifting in the yeast retrotransposon Ty: tRNAs induce slippage on a 7 nucleotide minimal site. Cell. 1990;62:339–52.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dabrowski M, Bukowy-Bieryllo Z, Zietkiewicz E. Translational readthrough potential of natural termination codons in eucaryotes-The impact of RNA sequence. RNA Biol. 2015;12:950–8.

Article  PubMed  PubMed Central  Google Scholar 

Pan YE, Tibbe D, Harms FL, Reissner C, Becker K, Dingmann B, et al. Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization. J Neurochem. 2021;157:1331–50.

Article  CAS  PubMed  Google Scholar 

Biederer T, Sara Y, Mozhayeva M, Atasoy D, Liu X, Kavalali ET, et al. SynCAM, a synaptic adhesion molecule that drives synapse assembly. Science. 2002;297:1525–31.

Article  CAS  PubMed  Google Scholar 

Butz S, Okamoto M, Sudhof TC. A tripartite protein complex with the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Cell. 1998;94:773–82.

Article  CAS  PubMed  Google Scholar 

Hsueh YP, Wang TF, Yang FC, Sheng M. Nuclear translocation and transcription regulation by the membrane-associated guanylate kinase CASK/LIN-2. Nature. 2000;404:298–302.

Article  CAS  PubMed  Google Scholar 

Kuo TY, Hong CJ, Chien HL, Hsueh YP. X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching and outgrowth. J Neurosci Res. 2010;88:2364–73.

CAS  PubMed  Google Scholar 

Jeyifous O, Waites CL, Specht CG, Fujisawa S, Schubert M, Lin EI, et al. SAP97 and CASK mediate sorting of NMDA receptors through a previously unknown secretory pathway. Nat Neurosci. 2009;12:1011–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liu X, Sun P, Yuan Q, Xie J, Xiao T, Zhang K, et al. Specific deletion of CASK in pancreatic beta cells affects glucose homeostasis and improves insulin sensitivity in obese mice by reducing hyperinsulinemia running title: beta cell CASK deletion reduces hyperinsulinemia. Diabetes 2022;71:104–15.

Lejeune F. Nonsense-mediated mRNA decay, a finely regulated mechanism. Biomedicines. 2022;10:141.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Backwell L, Marsh JA. Diverse molecular mechanisms underlying pathogenic protein mutations: beyond the loss-of-function paradigm. Annu Rev Genomics Hum Genet. 2022;23:475–98.

Article  PubMed  Google Scholar 

Wang GS, Hong CJ, Yen TY, Huang HY, Ou Y, Huang TN, et al. Transcriptional modification by a CASK-interacting nucleosome assembly protein. Neuron. 2004;42:113–28.

Article  CAS  PubMed  Google Scholar 

Nix SL, Chishti AH, Anderson JM, Walther Z. hCASK and hDlg associate in epithelia, and their src homology 3 and guanylate kinase domains participate in both intramolecular and intermolecular interactions. J Biol Chem. 2000;275:41192–41200.

Article  CAS  PubMed  Google Scholar 

Knight JRP, Garland G, Poyry T, Mead E, Vlahov N, Sfakianos A, et al. Control of translation elongation in health and disease. Dis Model Mech. 2020;13:dmm043208.

留言 (0)

沒有登入
gif