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;105:20953–8.
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;290:5105–16.
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;11:251–5.
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;25:4052–61.
Philips AK, Sirén A, Avela K, Somer M, Peippo M, Ahvenainen M, et al. X-exome sequencing in Finnish families with intellectual disability—four novel mutations and two novel syndromic phenotypes. Orphanet J Rare Dis. 2014;9:49.
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;75:318–24.
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;23:1513–8.
Kumar R, Ha T, Pham D, Shaw M, Mangelsdorf M, Friend KL, et al. A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability. Eur J Hum Genet. 2016;24:1612–6.
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;10:281–5.
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;84:456–62.
Gieldon L, Mackenroth L, Betcheva-Krajcir E, Rump A, Beck-Wödl 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;173:2545–50.
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;97:621–7.
Huyghebaert J, Mateiu L, Elinck E, Van Rossem KE, Christiaenssen B, D’Incal CP, et al. Identification of a DLG3 stop mutation in the MRX20 family. Eur J Hum Genet. 2024;32:1‑7.
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.
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;99:47–54.
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;380:1674–82.
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;55:577–85.
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.
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
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;9:1166–9.
Taşkıran EZ, Karaosmanoğlu B, Koşukcu C, Ürel-Demir G, Akgün-Doğan Ö, Şimşek-Kiper PÖ, et al. Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability. J Intellect Disabil Res. 2021;65:577–88.
Alagoz M, Kherad N, Solgun H, Ozkılıc A, Aslan E, Bozkurt S, et al. DLG3 impairment caused by missense variants in non-syndromic X-linked mental retardation. 2021.
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.
van der Ven AT, Johannsen J, Kortüm F, Wagner M, Tsiakas K, Bierhals T, et al. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort. Clin Genet. 2021;100:766–70.
Ibarluzea N, de la Hoz AB, Villate O, Llano I, Ocio I, Martà I, et al. Targeted next-generation sequencing in patients with suggestive X-linked intellectual disability. Genes. 2020;11:51.
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;185:2561–71.
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.
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;706:162–71.
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;36:928–30.
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;17:405–24.
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;99:877–85.
Oliva C, Escobedo P, Astorga C, Molina C, Sierralta J. Role of the maguk protein family in synapse formation and function. Dev Neurobiol. 2012;72:57–72.
Duff MC, Brown-Schmidt S. The hippocampus and the flexible use and processing of language. Front Hum Neurosci [Internet]. 5 avr 2012 [cité 9 oct 2024];6. Disponible sur: https://www.frontiersin.org/journals/human-neuroscience/articles/10.3389/fnhum.2012.00069/full
Ropers HH. X-linked mental retardation: many genes for a complex disorder. Curr Opin Genet Dev. 2006;16:260–9.
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.
Zheng CY, Petralia RS, Wang YX, Kachar B, Wenthold RJ. SAP102 is a highly mobile MAGUK in spines. J Neurosci. 2010;30:4757–66.
Rodrigues CHM, Pires DEV, Ascher DB. DynaMut2: assessing changes in stability and flexibility upon single and multiple point missense mutations. Protein Sci. 2021;30:60–9.