Preliminary Study on Clinical Characteristics and Pathogenesis of IQSEC2 Mutations Patients

References

• Levy NS, Umanah GKE, Rogers EJ, Jada R, Lache O, Levy AP. IQSEC2-Associated Intellectual Disability and Autism. Int J Mol Sci. 2019;20(12):12. doi:10.3390/ijms20123038
   Web of Science ®Google Scholar
• Brown JC, Petersen A, Zhong L, et al. Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression. Nat Commun. 2016;7:11080. doi:10.1038/ncomms11080
   PubMed Web of Science ®Google Scholar
• Ewans LJ, Field M, Zhu Y, et al. Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy. Eur J Hum Genet. 2017;25(6):763–767. doi:10.1038/ejhg.2017.29
   PubMed Web of Science ®Google Scholar
• Srivastava S, Desai S, Cohen J, et al. Monogenic disorders that mimic the phenotype of Rett syndrome. Neurogenetics. 2018;19(1):41–47. doi:10.1007/s10048-017-0535-3
   PubMed Web of Science ®Google Scholar
• Sakagami H, Sanda M, Fukaya M, et al. IQ-ArfGEF/BRAG1 is a guanine nucleotide exchange factor for Arf6 that interacts with PSD-95 at postsynaptic density of excitatory synapses. Neurosci Res. 2008;60(2):199–212. doi:10.1016/j.neures.2007.10.013
   PubMed Web of Science ®Google Scholar
• Kang J, Park H, Kim E. IRSp53/BAIAP2 in dendritic spine development, NMDA receptor regulation, and psychiatric disorders. Neuropharmacology. 2016;100:27–39. doi:10.1016/j.neuropharm.2015.06.019
   PubMed Web of Science ®Google Scholar
• Oren YS, Pranke IM, Kerem B, Sermet-Gaudelus I. The suppression of premature termination codons and the repair of splicing mutations in CFTR. Curr Opin Pharmacol. 2017;34:125–131. doi:10.1016/j.coph.2017.09.017
   PubMed Web of Science ®Google Scholar
• Feng J, He L, Li Y, Xiao F, Hu G. Modeling of PH Domains and Phosphoinositides Interactions and Beyond. Protein Reviews. 2018;19–32.
   Google Scholar
• Shoubridge C, Dudding-Byth T, Pasquier L, Goel H, Yap P, McConnell V. IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain. Clin Genet. 2022;102(1):72–77. doi:10.1111/cge.14136
   PubMed Web of Science ®Google Scholar
• Aizel K, Biou V, Navaza J, et al. Integrated conformational and lipid-sensing regulation of endosomal ArfGEF BRAG2. PLoS Biol. 2013;11(9):e1001652. doi:10.1371/journal.pbio.1001652
   PubMed Web of Science ®Google Scholar
• Heyne HO, Singh T, Stamberger H, et al. De novo variants in neurodevelopmental disorders with epilepsy. Nat Genet. 2018;50(7):1048–1053. doi:10.1038/s41588-018-0143-7
   PubMed Web of Science ®Google Scholar
• Helbig KL, Farwell Hagman KD, Shinde DN, et al. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med. 2016;18(9):898–905. doi:10.1038/gim.2015.186
   PubMed Web of Science ®Google Scholar
• Farwell KD, Shahmirzadi L, El-Khechen D, et al. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genet Med. 2015;17(7):578–586. doi:10.1038/gim.2014.154
   PubMed Web of Science ®Google Scholar
• Hamdan FF, Myers CT, Cossette P, et al. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017;101(5):664–685. doi:10.1016/j.ajhg.2017.09.008
   PubMed Web of Science ®Google Scholar
• Helm BM, Powis Z, Prada CE, et al. The role of IQSEC2 in syndromic intellectual disability: narrowing the diagnostic odyssey. Am J Med Genet A. 2017;173(10):2814–2820. doi:10.1002/ajmg.a.38404
   PubMed Web of Science ®Google Scholar
• Mignot C, McMahon AC, Bar C, et al. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. Genet Med. 2019;21(4):837–849. doi:10.1038/s41436-018-0268-1
   PubMed Web of Science ®Google Scholar
• Gandomi SK, Farwell Gonzalez KD, Parra M, et al. Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis. J Genet Couns. 2014;23(3):289–298. doi:10.1007/s10897-013-9671-6
   PubMed Web of Science ®Google Scholar
• Tzschach A, Grasshoff U, Beck-Woedl S, et al. Next-generation sequencing in X-linked intellectual disability. Eur J Hum Genet. 2015;23(11):1513–1518. doi:10.1038/ejhg.2015.5
   PubMed Web of Science ®Google Scholar
• de Kovel CG, Brilstra EH, van Kempen MJ, et al. Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. Mol Genet Genomic Med. 2016;4(5):568–580. doi:10.1002/mgg3.235
   PubMed Web of Science ®Google Scholar
• Zerem A, Haginoya K, Lev D, et al. The molecular and phenotypic spectrum of IQSEC2-related epilepsy. Epilepsia. 2016;57(11):1858–1869. doi:10.1111/epi.13560
   PubMed Web of Science ®Google Scholar
• Hynynen J, Pokka T, Komulainen-Ebrahim J, et al. Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: a retrospective cohort study of patients with epilepsy. Epilepsia. 2018;59(11):2125–2136. doi:10.1111/epi.14568
   PubMed Web of Science ®Google Scholar
• Staněk D, Laššuthová P, Štěrbová K, et al. Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life. Orphanet J Rare Dis. 2018;13(1):71. doi:10.1186/s13023-018-0812-8
   PubMedGoogle Scholar
• Radley JA, O’Sullivan RBG, Turton SE, et al. Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype. Clin Genet. 2019;95(4):496–506. doi:10.1111/cge.13507
   PubMed Web of Science ®Google Scholar
• Zhang Y, Kong W, Gao Y, et al. Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities. PLoS One. 2015;10(11):e0141782. doi:10.1371/journal.pone.0141782
   PubMed Web of Science ®Google Scholar
• Sajan SA, Jhangiani SN, Muzny DM, et al. Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med. 2017;19(1):13–19. doi:10.1038/gim.2016.42
   PubMed Web of Science ®Google Scholar
• Shoubridge C, Harvey RJ, Dudding-Byth T. IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy. Hum Mutat. 2019;40(1):5–24. doi:10.1002/humu.23670
   PubMed Web of Science ®Google Scholar
• Shoubridge C, Tarpey PS, Abidi F, et al. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nat Genet. 2010;42(6):486–488. doi:10.1038/ng.588
   PubMed Web of Science ®Google Scholar
• Alexander-Bloch AF, McDougle CJ, Ullman Z, Sweetser DA. IQSEC2 and X-linked syndromal intellectual disability. Psychiatr Genet. 2016;26(3):101–108. doi:10.1097/ypg.0000000000000128
   PubMed Web of Science ®Google Scholar
• Brant B, Stern T, Shekhidem HA, et al. IQSEC2 mutation associated with epilepsy, intellectual disability, and autism results in hyperexcitability of patient-derived neurons and deficient synaptic transmission. Mol Psychiatry. 2021;26(12):7498–7508. doi:10.1038/s41380-021-01281-0
   PubMed Web of Science ®Google Scholar
• Karaman Mercan T, Altiok Clark O, Erkal O, et al. Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability. Cytogenet Genome Res. 2021;161(3–4):153–159. doi:10.1159/000515368
   PubMed Web of Science ®Google Scholar
• Lichtman D, Bergmann E, Kavushansky A, et al. Structural and functional brain-wide alterations in A350V Iqsec2 mutant mice displaying autistic-like behavior. Transl Psychiatry. 2021;11(1):181. doi:10.1038/s41398-021-01289-8
   PubMed Web of Science ®Google Scholar
• Myers KR, Wang G, Sheng Y, Conger KK, Casanova JE, Zhu JJ. Arf6-GEF BRAG1 regulates JNK-mediated synaptic removal of GluA1-containing AMPA receptors: a new mechanism for nonsyndromic X-linked mental disorder. J Neurosci. 2012;32(34):11716–11726. doi:10.1523/JNEUROSCI.1942-12.2012
   PubMed Web of Science ®Google Scholar
• Sanda M, Kamata A, Katsumata O, et al. The postsynaptic density protein, IQ-ArfGEF/BRAG1, can interact with IRSp53 through its proline-rich sequence. Brain Res. 2009;1251:7–15. doi:10.1016/j.brainres.2008.11.061
   PubMed Web of Science ®Google Scholar
• Coley AA, Gao WJ. PSD95: a synaptic protein implicated in schizophrenia or autism? Prog Neuropsychopharmacol Biol Psychiatry. 2018;82:187–194. doi:10.1016/j.pnpbp.2017.11.016
   PubMed Web of Science ®Google Scholar
• Frank RAW, Zhu F, Komiyama NH, Grant SGN. Hierarchical organization and genetically separable subfamilies of PSD95 postsynaptic supercomplexes. J Neurochem. 2017;142(4):504–511. doi:10.1111/jnc.14056
   PubMed Web of Science ®Google Scholar
• Petersen A, Brown JC, Gerges NZ. BRAG1/IQSEC2 as a regulator of small GTPase-dependent trafficking. Small GTPases. 2020;11(1):1–7. doi:10.1080/21541248.2017.1361898
   PubMedGoogle Scholar
• Sato J, Shimazu D, Yamamoto N, Nishikawa T. An association analysis of synapse-associated protein 97 (SAP97) gene in schizophrenia. J Neural Transm. 2008;115(9):1355–1365. doi:10.1007/s00702-008-0085-9
   PubMed Web of Science ®Google Scholar
• Zheng CY, Seabold GK, Horak M, Petralia RS. MAGUKs, synaptic development, and synaptic plasticity. Neuroscientist. 2011;17(5):493–512. doi:10.1177/1073858410386384
   PubMed Web of Science ®Google Scholar
• Falace A, Buhler E, Fadda M, et al. TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway. Proc Natl Acad Sci U S A. 2014;111(6):2337–2342. doi:10.1073/pnas.1316294111
   PubMed Web of Science ®Google Scholar
• Choi J, Ko J, Racz B, et al. Regulation of dendritic spine morphogenesis by insulin receptor substrate 53, a downstream effector of Rac1 and Cdc42 small GTPases. J Neurosci. 2005;25(4):869–879. doi:10.1523/jneurosci.3212-04.2005
   PubMed Web of Science ®Google Scholar
• Choi S, Ko J, Lee JR, et al. ARF6 and EFA6A regulate the development and maintenance of dendritic spines. J Neurosci. 2006;26(18):4811–4819. doi:10.1523/jneurosci.4182-05.2006
   PubMed Web of Science ®Google Scholar
• Hernández-Deviez DJ, Casanova JE, Wilson JM. Regulation of dendritic development by the ARF exchange factor ARNO. Nat Neurosci. 2002;5(7):623–624. doi:10.1038/nn865
   PubMed Web of Science ®Google Scholar
• Izumi T, Aihara Y, Kikuchi A, Kure S. Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant. Brain Dev. 2021;43(5):652–656. doi:10.1016/j.braindev.2020.12.020
   PubMed Web of Science ®Google Scholar
• Choi MH, Yang JO, Min JS, et al. A Novel X-Linked Variant of IQSEC2 is Associated with Lennox-Gastaut Syndrome and Mild Intellectual Disability in Three Generations of a Korean Family. Genet Test Mol Biomarkers. 2020;24(1):54–58. doi:10.1089/gtmb.2019.0177
   PubMed Web of Science ®Google Scholar
• Dulac O. Epileptic encephalopathy with suppression-bursts and nonketotic hyperglycinemia. Handb Clin Neurol. 2013;113:1785–1797. doi:10.1016/b978-0-444-59565-2.00048-4
   PubMedGoogle Scholar
• Riikonen R. Biochemical mechanisms in pathogenesis of infantile epileptic spasm syndrome. Seizure. 2023;105:1–9. doi:10.1016/j.seizure.2023.01.004
   PubMed Web of Science ®Google Scholar