{"id":246766,"date":"2025-09-22T16:57:11","date_gmt":"2025-09-22T16:57:11","guid":{"rendered":"https:\/\/www.europesays.com\/us\/246766\/"},"modified":"2025-09-22T16:57:11","modified_gmt":"2025-09-22T16:57:11","slug":"further-phenotypical-delineation-of-dlg3-related-neurodevelopmental-disorders","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/us\/246766\/","title":{"rendered":"Further phenotypical delineation of DLG3-related neurodevelopmental disorders"},"content":{"rendered":"
  • \n

    Elias GM, Elias LAB, Apostolides PF, Kriegstein AR, Nicoll RA. Differential trafficking of AMPA and NMDA receptors by SAP102 and PSD-95 underlies synapse development. Proc Natl Acad Sci USA. 2008;105:20953\u20138.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Wei Z, Behrman B, Wu WH, Chen BS. Subunit-specific Regulation of N-Methyl-d-aspartate (NMDA) Receptor Trafficking by SAP102 Protein Splice Variants. J Biol Chem. 2015;290:5105\u201316.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Zanni G, van Esch H, Bensalem A, Saillour Y, Poirier K, Castelnau L, et al. A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation. Neurogenetics. 2010;11:251\u20135.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Crocker-Buque A, Currie SP, Luz LL, Grant SG, Duffy KR, Kind PC, et al. Altered thalamocortical development in the SAP102 knockout model of intellectual disability. Hum Mol Genet. 2016;25:4052\u201361.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Philips AK, Sir\u00e9n A, Avela K, Somer M, Peippo M, Ahvenainen M, et al. X-exome sequencing in Finnish families with intellectual disability\u2014four novel mutations and two novel syndromic phenotypes. Orphanet J Rare Dis. 2014;9:49.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C, et al. Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. Am J Hum Genet. 2004;75:318\u201324.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Tzschach A, Grasshoff U, Beck-Woedl S, Dufke C, Bauer C, Kehrer M, et al. Next-generation sequencing in X-linked intellectual disability. Eur J Hum Genet. 2015;23:1513\u20138.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Kumar R, Ha T, Pham D, Shaw M, Mangelsdorf M, Friend KL, et al. A non-coding variant in the 5\u02b9 UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability. Eur J Hum Genet. 2016;24:1612\u20136.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Sandestig A, Green A, Aronsson J, Ellnebo K, Stefanova M. A novel DLG3 mutation expanding the phenotype of X-linked intellectual disability caused by DLG3 nonsense variants. Mol Syndromol. 2020;10:281\u20135.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Zhang X, Qiu W, Liu H, Ye X, Sun Y, Fan Y, et al. RT-PCR analysis of mRNA revealed the splice-altering effect of rare intronic variants in monogenic disorders. Ann Hum Genet. 2020;84:456\u201362.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Gieldon L, Mackenroth L, Betcheva-Krajcir E, Rump A, Beck-W\u00f6dl S, Schallner J, et al. Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability. Am J Med Genet Part A. 2017;173:2545\u201350.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Froukh T, Nafie O, Al Hait SAS, Laugwitz L, Sommerfeld J, Sturm M, et al. Genetic basis of neurodevelopmental disorders in 103 Jordanian families. Clin Genet. 2020;97:621\u20137.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Huyghebaert J, Mateiu L, Elinck E, Van Rossem KE, Christiaenssen B, D\u2019Incal CP, et al. Identification of a DLG3 stop mutation in the MRX20 family. Eur J Hum Genet. 2024;32:1\u20117.<\/p>\n<\/li>\n

  • \n

    Stranneheim H, Lagerstedt-Robinson K, Magnusson M, Kvarnung M, Nilsson D, Lesko N, et al. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. Genome Med. 2021;13:40.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Kim SH, Kim B, Lee JS, Kim HD, Choi JR, Lee ST, et al. Proband-only clinical exome sequencing for neurodevelopmental disabilities. Pediatr Neurol. 2019;99:47\u201354.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012;380:1674\u201382.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Isrie M, Froyen G, Devriendt K, de Ravel T, Fryns JP, Vermeesch JR, et al. Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants. Eur J Med Genet. 2012;55:577\u201385.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    He YY, Luo S, Jin L, Wang PY, Xu J, Jiao HL, et al. DLG3 variants caused X-linked epilepsy with\/without neurodevelopmental disorders and the genotype-phenotype correlation. Front Mol Neurosci. 2023;16:1290919.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Jiang T, Gao J, Jiang L, Xu L, Zhao C, Su X, et al. Application of trio-whole exome sequencing in genetic diagnosis and therapy in Chinese children with epilepsy. Front Mol Neurosci. 2021;14:699574<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Chen Y, Tang X, Liu L, Huang Q, Lin L, Liu G, et al. Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD\/ID). Genes Dis. 2021;9:1166\u20139.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Ta\u015fk\u0131ran EZ, Karaosmano\u011flu B, Ko\u015fukcu C, \u00dcrel-Demir G, Akg\u00fcn-Do\u011fan \u00d6, \u015eim\u015fek-Kiper P\u00d6, et al. Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability. J Intellect Disabil Res. 2021;65:577\u201388.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Alagoz M, Kherad N, Solgun H, Ozk\u0131l\u0131c A, Aslan E, Bozkurt S, et al. DLG3 impairment caused by missense variants in non-syndromic X-linked mental retardation. 2021.<\/p>\n<\/li>\n

  • \n

    Bowling KM, Thompson ML, Amaral MD, Finnila CR, Hiatt SM, Engel KL, et al. Genomic diagnosis for children with intellectual disability and\/or developmental delay. Genome Med. 2017;9:43.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    van der Ven AT, Johannsen J, Kort\u00fcm F, Wagner M, Tsiakas K, Bierhals T, et al. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort. Clin Genet. 2021;100:766\u201370.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Ibarluzea N, de la Hoz AB, Villate O, Llano I, Ocio I, Mart\u00ed I, et al. Targeted next-generation sequencing in patients with suggestive X-linked intellectual disability. Genes. 2020;11:51.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Marinakis NM, Svingou M, Veltra D, Kekou K, Sofocleous C, Tilemis FN, et al. Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. Am J Med Genet Part A. 2021;185:2561\u201371.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Matis T, Michaud V, Van-Gils J, Raclet V, Plaisant C, Fergelot P, et al. Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES: a case report. J Gene Med. 2020;22:e3197.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Magini P, Scarano E, Donati I, Sensi A, Mazzanti L, Perri A, et al. Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders. Gene. 2019;706:162\u201371.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Sobreira N, Schiettecatte F, Valle D, Hamosh A. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum Mutat. 2015;36:928\u201330.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med mai. 2015;17:405\u201324.<\/p>\n

    Article<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, et al. REVEL: an ensemble method for predicting the pathogenicity of rare missense variants. Am J Hum Genet. 2016;99:877\u201385.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Oliva C, Escobedo P, Astorga C, Molina C, Sierralta J. Role of the maguk protein family in synapse formation and function. Dev Neurobiol. 2012;72:57\u201372.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Duff MC, Brown-Schmidt S. The hippocampus and the flexible use and processing of language. Front Hum Neurosci [Internet]. 5 avr 2012 [cit\u00e9 9 oct 2024];6. Disponible sur: https:\/\/www.frontiersin.org\/journals\/human-neuroscience\/articles\/10.3389\/fnhum.2012.00069\/full<\/a><\/p>\n<\/li>\n

  • \n

    Ropers HH. X-linked mental retardation: many genes for a complex disorder. Curr Opin Genet Dev. 2006;16:260\u20139.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Fauchere J, Pliska V. Hydrophobic parameters II of amino acid side-chains from the partitioning of N-acetyl-amino acid amides. Eur J Med Chem. 1983;1:18.<\/p>\n


    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Zheng CY, Petralia RS, Wang YX, Kachar B, Wenthold RJ. SAP102 is a highly mobile MAGUK in spines. J Neurosci. 2010;30:4757\u201366.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Rodrigues CHM, Pires DEV, Ascher DB. DynaMut2: assessing changes in stability and flexibility upon single and multiple point missense mutations. Protein Sci. 2021;30:60\u20139.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n","protected":false},"excerpt":{"rendered":"Elias GM, Elias LAB, Apostolides PF, Kriegstein AR, Nicoll RA. Differential trafficking of AMPA and NMDA receptors by…\n","protected":false},"author":3,"featured_media":246767,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[26],"tags":[18531,15576,15579,23455,18532,834,815,15577,89430,159,67,132,68],"class_list":{"0":"post-246766","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-bioinformatics","9":"tag-biomedicine","10":"tag-cytogenetics","11":"tag-disease-genetics","12":"tag-gene-expression","13":"tag-general","14":"tag-genetics","15":"tag-human-genetics","16":"tag-neurodevelopmental-disorders","17":"tag-science","18":"tag-united-states","19":"tag-unitedstates","20":"tag-us"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@us\/115249010633168378","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/246766","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/comments?post=246766"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/246766\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media\/246767"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media?parent=246766"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/categories?post=246766"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/tags?post=246766"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}