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DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769 Free article.
PURPOSE: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants. ...CONCLUSION: The present study …
PURPOSE: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we pres …
DLG4-Related Synaptopathy.
Tümer Z, Dye TJ, Prada C, White-Brown AM, MacKenzie A, Levy AM. Tümer Z, et al. 2023 Jun 22. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2023 Jun 22. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 37347881 Free Books & Documents. Review.
Joint laxity is a relatively common finding (36.9%), and scoliosis is noted in 20% of individuals. DIAGNOSIS/TESTING: The diagnosis of DLG4-related synaptopathy is established in a proband with suggestive clinical findings and a heterozygous pathogenic variant in DLG4 …
Joint laxity is a relatively common finding (36.9%), and scoliosis is noted in 20% of individuals. DIAGNOSIS/TESTING: The diagnosis of DL …
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SM, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, Rubboli G. Kassabian B, et al. Epilepsia. 2024 Apr;65(4):1029-1045. doi: 10.1111/epi.17876. Epub 2024 Feb 29. Epilepsia. 2024. PMID: 38135915
We describe here the phenotypic spectrum of epilepsy and associated comorbidities in patients with DLG4-related synaptopathy. METHODS: We included 35 individuals with a DLG4 variant and epilepsy as part of a multicenter study. ...Our study confirms DEE as part of th …
We describe here the phenotypic spectrum of epilepsy and associated comorbidities in patients with DLG4-related synaptopathy. METHODS …
Synaptic pruning by microglia is necessary for normal brain development.
Paolicelli RC, Bolasco G, Pagani F, Maggi L, Scianni M, Panzanelli P, Giustetto M, Ferreira TA, Guiducci E, Dumas L, Ragozzino D, Gross CT. Paolicelli RC, et al. Science. 2011 Sep 9;333(6048):1456-8. doi: 10.1126/science.1202529. Epub 2011 Jul 21. Science. 2011. PMID: 21778362
Normal gut microbiota modulates brain development and behavior.
Diaz Heijtz R, Wang S, Anuar F, Qian Y, Björkholm B, Samuelsson A, Hibberd ML, Forssberg H, Pettersson S. Diaz Heijtz R, et al. Proc Natl Acad Sci U S A. 2011 Feb 15;108(7):3047-52. doi: 10.1073/pnas.1010529108. Epub 2011 Jan 31. Proc Natl Acad Sci U S A. 2011. PMID: 21282636 Free PMC article.
A deep intronic DLG4 variant resulting in DLG4-related synaptopathy.
Levy AM, Ganapathi M, Chung WK, Tümer Z. Levy AM, et al. Clin Genet. 2024 Jan;105(1):77-80. doi: 10.1111/cge.14411. Epub 2023 Aug 1. Clin Genet. 2024. PMID: 37525972
The rare autosomal dominant brain disorder DLG4-related synaptopathy is caused by de novo variants in DLG4 (encoding PSD-95), the majority of which are predicted to be protein-truncating. ...Here, we describe a young boy with a deep intronic DLG4 variant (c.2 …
The rare autosomal dominant brain disorder DLG4-related synaptopathy is caused by de novo variants in DLG4 (encoding PSD-95), …
Dlg4 and Vamp2 are involved in comorbid epilepsy and attention-deficit hyperactivity disorder: A microarray data study.
Xi XJ, Tang JH, Zhang BB, Xiao X, Hu XY, Wan Y, Zhou C, Lin H. Xi XJ, et al. Epilepsy Behav. 2020 Sep;110:107192. doi: 10.1016/j.yebeh.2020.107192. Epub 2020 Jun 21. Epilepsy Behav. 2020. PMID: 32580088
RESULTS: Three modules closely related to epilepsy and ADHD were screened using WGCNA; DEGs in this module were involved in the synaptic vesicle cycle, axon and neuron regeneration, and neurotransmission. The Dlg4 and Vamp2 genes were selected as common candidate factors i …
RESULTS: Three modules closely related to epilepsy and ADHD were screened using WGCNA; DEGs in this module were involved in the synaptic ves …
A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression.
Tokunaga S, Shimomura H, Taniguchi N, Yanagi K, Kaname T, Okamoto N, Takeshima Y. Tokunaga S, et al. Hum Genome Var. 2024 Jan 5;11(1):1. doi: 10.1038/s41439-023-00260-x. Hum Genome Var. 2024. PMID: 38182567 Free PMC article.
DLG4-related synaptopathy is a neurodevelopmental disorder caused by a DLG4 variant. We identified a novel de novo heterozygous frameshift variant, NM_001321075.3(DLG4):c.554_563del, in a Japanese girl. Intellectual regression without motor delay was observed …
DLG4-related synaptopathy is a neurodevelopmental disorder caused by a DLG4 variant. We identified a novel de novo heterozygou …
FMRP, FXR1 protein and Dlg4 mRNA, which are associated with fragile X syndrome, are involved in the ubiquitin-proteasome system.
Shimizu H, Hohjoh H. Shimizu H, et al. Sci Rep. 2023 Feb 2;13(1):1956. doi: 10.1038/s41598-023-29152-4. Sci Rep. 2023. PMID: 36732356 Free PMC article.
Fmr1-, Fxr1- and Dlg4-knockdown and Fmr1- and Fxr1-knockdown resulted in increased ubiquitination and proteasome activity, respectively. FXR1 protein was further confirmed to be associated with proteasomes, and Dlg4 mRNA itself was found to be involved in the UPS. K …
Fmr1-, Fxr1- and Dlg4-knockdown and Fmr1- and Fxr1-knockdown resulted in increased ubiquitination and proteasome activity, respective …
Targeting postsynaptic glutamate receptor scaffolding proteins PSD-95 and PICK1 for obesity treatment.
Fadahunsi N, Petersen J, Metz S, Jakobsen A, Vad Mathiesen C, Silke Buch-Rasmussen A, Kurgan N, Kjærgaard Larsen J, Andersen RC, Topilko T, Svendsen C, Apuschkin M, Skovbjerg G, Hendrik Schmidt J, Houser G, Elgaard Jager S, Bach A, Deshmukh AS, Kilpeläinen TO, Strømgaard K, Madsen KL, Clemmensen C. Fadahunsi N, et al. Sci Adv. 2024 Mar;10(9):eadg2636. doi: 10.1126/sciadv.adg2636. Epub 2024 Mar 1. Sci Adv. 2024. PMID: 38427737 Free PMC article.
Here, we use UK Biobank GWAS summary statistics of body mass index (BMI) and body fat percentage (BF%) to identify genes encoding proteins known to interact with postsynaptic alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) and N-methyl-d-aspartate (NMDA) receptors …
Here, we use UK Biobank GWAS summary statistics of body mass index (BMI) and body fat percentage (BF%) to identify genes encoding proteins k …
1,941 results