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Page 1
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O'Roak BJ, Geschwind DH; SPARK Consortium; Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK. Zhou X, et al. Nat Genet. 2022 Sep;54(9):1305-1319. doi: 10.1038/s41588-022-01148-2. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982159 Free PMC article.
Autistic individuals with LoF variants in the four moderate-risk genes (NAV3, ITSN1, SCAF1 and HNRNPUL2; n = 95) have less cognitive impairment than 129 autistic individuals with LoF variants in highly penetrant genes (CHD8, SCN2A, ADNP, FOXP1 and SHANK3) (59% vs 88%, P = …
Autistic individuals with LoF variants in the four moderate-risk genes (NAV3, ITSN1, SCAF1 and HNRNPUL2; n = 95) have less cognitive impairm …
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett WE Jr, Betancur C, Brickhouse TH, Passos Bueno MR, Chopra M, Christensen CK, Cully JL, Dies K, Friedman K, Gummere B, Holder JL Jr, Jimenez-Gomez A, Kerins CA, Khan O, Kohlenberg T, Lacro RV, Levi LA, Levy T, Linnehan D, Eva L, Moshiree B, Neumeyer A, Paul SM, Phelan K, Persico A, Rapaport R, Rogers C, Saland J, Sethuram S, Shapiro J, Tarr PI, White KM, Wickstrom J, Williams KM, Winrow D, Wishart B, Kolevzon A. Srivastava S, et al. Am J Med Genet A. 2023 Aug;191(8):2015-2044. doi: 10.1002/ajmg.a.63312. Epub 2023 Jul 1. Am J Med Genet A. 2023. PMID: 37392087 Free PMC article. Review.
Phelan-McDermid syndrome (PMS) is a genetic condition caused by SHANK3 haploinsufficiency and characterized by a wide range of neurodevelopmental and systemic manifestations. ...
Phelan-McDermid syndrome (PMS) is a genetic condition caused by SHANK3 haploinsufficiency and characterized by a wide range of neurod …
AAVLINK: A potent DNA-recombination method for large cargo delivery in gene therapy.
Lin J, Lin Y, Liu N, Cao W, Zhang J, Wen S, Zhang Y, Liao W, Hong Z, Lin Y, Liu Q, Liu H, Li Q, Chen B, Li M, Luo Z, Yang L, Yang Y, Zheng SH, Wang Y, Chu H, Hu Y, Qin Y, Luo BX, Tian S, Chen Y, Yan T, Yang L, Wang H, Liu T, Jiang Y, Lu Z. Lin J, et al. Cell. 2026 Feb 5;189(3):969-986.e17. doi: 10.1016/j.cell.2025.12.039. Epub 2026 Jan 27. Cell. 2026. PMID: 41605211
This AAVLINK strategy enabled superior gene segmentation flexibility, robust gene reconstitution efficiency, and a marked reduction in truncated protein products. AAVLINK drove expression of intact Shank3 or SCN1A and rescued behavior and seizure phenotypes of mutant mice, …
This AAVLINK strategy enabled superior gene segmentation flexibility, robust gene reconstitution efficiency, and a marked reduction in trunc …
Shank3 mutation impairs glutamate signaling and myelination in ASD mouse model and human iPSC-derived OPCs.
Fischer I, Shohat S, Leichtmann-Bardoogo Y, Nayak R, Wiener G, Rosh I, Shemen A, Tripathi U, Rokach M, Bar E, Hussein Y, Castro AC, Chen G, Soffer A, Schokoroy-Trangle S, Elad-Sfadia G, Assaf Y, Schroeder A, Monteiro P, Stern S, Maoz BM, Barak B. Fischer I, et al. Sci Adv. 2024 Oct 11;10(41):eadl4573. doi: 10.1126/sciadv.adl4573. Epub 2024 Oct 11. Sci Adv. 2024. PMID: 39392881 Free PMC article.
Autism spectrum disorder (ASD) is characterized by social and neurocognitive impairments, with mutations of the SHANK3 gene being prominent in patients with monogenic ASD. Using the InsG3680 mouse model with a Shank3 mutation seen in humans, we revealed an unknown r …
Autism spectrum disorder (ASD) is characterized by social and neurocognitive impairments, with mutations of the SHANK3 gene being pro …
Shank3 oligomerization governs material properties of the postsynaptic density condensate and synaptic plasticity.
Jia B, Shen Z, Zhu S, Huang J, Liao Z, Zhao S, Li H, Chen S, Xu Y, Wang Y, Peng H, Bai G, Lu Y, Tong P, Tao W, Zhang M. Jia B, et al. Cell. 2025 Nov 13;188(23):6473-6491.e21. doi: 10.1016/j.cell.2025.07.047. Epub 2025 Aug 22. Cell. 2025. PMID: 40848728
Such glass-like PSD condensate formation is based on percolation of the PSD protein network via specific and multivalent interactions among scaffold proteins. Disruption of Shank3 SAM domain-mediated oligomerization, one type of SHANK3 mutation observed in Phelan-Mc …
Such glass-like PSD condensate formation is based on percolation of the PSD protein network via specific and multivalent interactions among …
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Vissers LELM, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, Kwint M, Witmond M, Kersten S, Polla DL, Weijers D, Begtrup A, McWalter K, Ruiz A, Gabau E, Morton JEV, Griffith C, Weiss K, Gamble C, Bartley J, Vernon HJ, Brunet K, Ruivenkamp C, Kant SG, Kruszka P, Larson A, Afenjar A, Billette de Villemeur T, Nugent K; DDD Study; Raymond FL, Venselaar H, Demurger F, Soler-Alfonso C, Li D, Bhoj E, Hayes I, Hamilton NP, Ahmad A, Fisher R, van den Born M, Willems M, Sorlin A, Delanne J, Moutton S, Christophe P, Mau-Them FT, Vitobello A, Goel H, Massingham L, Phornphutkul C, Schwab J, Keren B, Charles P, Vreeburg M, De Simone L, Hoganson G, Iascone M, Milani D, Evenepoel L, Revencu N, Ward DI, Burns K, Krantz I, Raible SE, Murrell JR, Wood K, Cho MT, van Bokhoven H, Muenke M, Kleefstra T, Bodmer R, de Brouwer APM. Vissers LELM, et al. Am J Hum Genet. 2020 Jul 2;107(1):164-172. doi: 10.1016/j.ajhg.2020.05.017. Epub 2020 Jun 17. Am J Hum Genet. 2020. PMID: 32553196 Free PMC article.
Furthermore, the genetic interaction with autism-spectrum genes, such as ASH1L, DYRK1A, MED13, and SHANK3, was impaired in our Drosophila models. Molecular characterization of CNOT1 variants revealed normal CNOT1 expression levels, with both mutant and wild-type alleles ex …
Furthermore, the genetic interaction with autism-spectrum genes, such as ASH1L, DYRK1A, MED13, and SHANK3, was impaired in our Drosop …
Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population.
Qiu S, Qiu Y, Li Y, Zhu X, Liu Y, Qiao Y, Cheng Y, Liu Y. Qiu S, et al. BMC Psychiatry. 2023 Feb 7;23(1):96. doi: 10.1186/s12888-023-04565-7. BMC Psychiatry. 2023. PMID: 36750796 Free PMC article.
Additionally, we found 20 potential pathogenic genes of ASD in our population, including eight protein coding genes (six duplications [DRD4, HRAS, OPHN1, SHANK3, SLC6A3, and TSC2] and two deletions [CHRNA7 and PTEN]) and 12 microRNAs-coding genes (ten duplications [MIR202, …
Additionally, we found 20 potential pathogenic genes of ASD in our population, including eight protein coding genes (six duplications [DRD4, …
Whole-genome sequencing identifies novel genes for autism in Chinese trios.
Chang S, Liu JJ, Zhao Y, Pang T, Zheng X, Song Z, Zhang A, Gao X, Luo L, Guo Y, Liu J, Yang L, Lu L. Chang S, et al. Sci China Life Sci. 2024 Nov;67(11):2368-2381. doi: 10.1007/s11427-023-2564-8. Epub 2024 Aug 7. Sci China Life Sci. 2024. PMID: 39126614
Besides the well-known ASD genes (SCN2A, NF1, SHANK3, CHD8 etc.), several high confidence genes were highlighted by a series of functional analyses, including CTNND1, DGKZ, LRP1, DDN, ZNF483, NR4A2, SMAD6, INTS1, and MRPL12, with more supported evidence from GO enrichment, …
Besides the well-known ASD genes (SCN2A, NF1, SHANK3, CHD8 etc.), several high confidence genes were highlighted by a series of funct …
SHANK3 depletion leads to ERK signalling overdose and cell death in KRAS-mutant cancers.
Lilja J, Kaivola J, Conway JRW, Vuorio J, Parkkola H, Roivas P, Dibus M, Chastney MR, Varila T, Jacquemet G, Peuhu E, Wang E, Pentikäinen U, Martinez D Posada I, Hamidi H, Najumudeen AK, Sansom OJ, Barsukov IL, Abankwa D, Vattulainen I, Salmi M, Ivaska J. Lilja J, et al. Nat Commun. 2024 Sep 12;15(1):8002. doi: 10.1038/s41467-024-52326-1. Nat Commun. 2024. PMID: 39266533 Free PMC article.
SHANK3 depletion breaches this threshold, triggering MAPK/ERK signalling hyperactivation and MAPK/ERK-dependent cell death in KRAS-mutant cancers. Targeting this vulnerability through RNA interference or nanobody-mediated disruption of the SHANK3-KRAS interaction co …
SHANK3 depletion breaches this threshold, triggering MAPK/ERK signalling hyperactivation and MAPK/ERK-dependent cell death in KRAS-mu …
Synaptic protein mutations in autism.
Sauer AK, Walsh JA, Curran D, Zohourian N, Stanton JE, Zabetakis I, Brown JAL, Grabrucker AM. Sauer AK, et al. Neurobiol Dis. 2026 Jun 1;223:107365. doi: 10.1016/j.nbd.2026.107365. Epub 2026 Mar 26. Neurobiol Dis. 2026. PMID: 41903657 Free article. Review.
183 results