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Page 1
15q13.3 Recurrent Deletion.
van Bon BWM, Mefford HC, de Vries BBA, Schaaf CP. van Bon BWM, et al. 2010 Dec 23 [updated 2022 Nov 17]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2010 Dec 23 [updated 2022 Nov 17]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 21290787 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Individuals with the 15q13.3 recurrent deletion may have a wide range of clinical manifestations. The deletion itself may not lead to a clinically recognizable syndrome and a subset of persons with the recurrent deletion …
CLINICAL CHARACTERISTICS: Individuals with the 15q13.3 recurrent deletion may have a wide range of clinical manifestati …
The Autism Spectrum: Behavioral, Psychiatric and Genetic Associations.
Genovese A, Butler MG. Genovese A, et al. Genes (Basel). 2023 Mar 9;14(3):677. doi: 10.3390/genes14030677. Genes (Basel). 2023. PMID: 36980949 Free PMC article. Review.
Over 800 genes and dozens of genetic syndromes are associated with ASD. Novel gene-protein interactions with pathway and molecular function analyses have identified at least three functional pathways including chromatin modeling, Wnt, Notch and other signaling pathways and …
Over 800 genes and dozens of genetic syndromes are associated with ASD. Novel gene-protein interactions with pathway and molecular fu …
Duplication Versus Deletion Through the Lens of 15q13.3: Clinical and Research Implications of Studying Copy Number Variants Associated with Neuropsychiatric Disorders in Induced Pluripotent Stem Cell-Derived Neurons.
Antony I, Narasimhan M, Shen R, Prakasam R, Kaushik K, Chapman G, Kroll KL. Antony I, et al. Stem Cell Rev Rep. 2023 Apr;19(3):639-650. doi: 10.1007/s12015-022-10475-0. Epub 2022 Nov 12. Stem Cell Rev Rep. 2023. PMID: 36370261 Free PMC article. Review.
Like most CNVs, deletions at 15q13.3 usually cause severe clinical phenotypes, while duplications instead result in highly variable penetrance, with some carriers exhibiting no clinical phenotype. Here, we describe cellular and molecular phenotypes seen in iP …
Like most CNVs, deletions at 15q13.3 usually cause severe clinical phenotypes, while duplications instead result in hig …
Epilepsy, EEG and chromosomal rearrangements.
Paprocka J, Coppola A, Cuccurullo C, Stawicka E, Striano P. Paprocka J, et al. Epilepsia Open. 2024 Aug;9(4):1192-1232. doi: 10.1002/epi4.12951. Epub 2024 Jun 4. Epilepsia Open. 2024. PMID: 38837855 Free PMC article. Review.
The comprehensive review concludes with clinical presentations of the most common micro and macro chromosomal rearrangements, such as 17q21.31 microdeletion, 6q terminal deletion, 15q inv dup syndrome, 2q24.4 deletion, Xp11.22-11.23 duplication, 15q13.3 …
The comprehensive review concludes with clinical presentations of the most common micro and macro chromosomal rearrangements, such as 17q21. …
The 15q13.3 deletion syndrome: Deficient alpha(7)-containing nicotinic acetylcholine receptor-mediated neurotransmission in the pathogenesis of neurodevelopmental disorders.
Deutsch SI, Burket JA, Benson AD, Urbano MR. Deutsch SI, et al. Prog Neuropsychopharmacol Biol Psychiatry. 2016 Jan 4;64:109-17. doi: 10.1016/j.pnpbp.2015.08.001. Epub 2015 Aug 7. Prog Neuropsychopharmacol Biol Psychiatry. 2016. PMID: 26257138 Review.
Nonetheless, the 15q13.3 deletion syndrome is associated with several neuropsychiatric disorders, including idiopathic generalized epilepsy, intellectual disability, autism spectrum disorders (ASDs) and schizophrenia. Haploinsufficient expression of CHRNA7 in …
Nonetheless, the 15q13.3 deletion syndrome is associated with several neuropsychiatric disorders, including idiopathic …
Autism spectrum disorder: neuropathology and animal models.
Varghese M, Keshav N, Jacot-Descombes S, Warda T, Wicinski B, Dickstein DL, Harony-Nicolas H, De Rubeis S, Drapeau E, Buxbaum JD, Hof PR. Varghese M, et al. Acta Neuropathol. 2017 Oct;134(4):537-566. doi: 10.1007/s00401-017-1736-4. Epub 2017 Jun 5. Acta Neuropathol. 2017. PMID: 28584888 Free PMC article. Review.
Genetically modified models include those based on well-studied monogenic ASD genes (NLGN3, NLGN4, NRXN1, CNTNAP2, SHANK3, MECP2, FMR1, TSC1/2), emerging risk genes (CHD8, SCN2A, SYNGAP1, ARID1B, GRIN2B, DSCAM, TBR1), and copy number variants (15q11-q13 deletion, 15q13 …
Genetically modified models include those based on well-studied monogenic ASD genes (NLGN3, NLGN4, NRXN1, CNTNAP2, SHANK3, MECP2, FMR1, TSC1 …
Heterozygous Deletion of Chromosome 15q13.3 in a Boy with Developmental Regression, Global Developmental Delay, Hypotonia, and Short Stature.
Strauss AM, Buhle AC, Finkler DM. Strauss AM, et al. Pediatr Rep. 2022 Dec 5;14(4):528-532. doi: 10.3390/pediatric14040061. Pediatr Rep. 2022. PMID: 36548204 Free PMC article.
Two causes of intellectual disability are 15q13.3 deletion syndrome and BRWD3 X-linked intellectual disability. 15q13.3 deletion syndrome causes a heterogenous phenotype including intellectual disability (ID), developmental delay (DD), au …
Two causes of intellectual disability are 15q13.3 deletion syndrome and BRWD3 X-linked intellectual disability. 15q1 …
Prenatal diagnosis of 15q13.3 deletion and duplication syndrome: what do we tell the prospective parents?
Luo X, Liu H, Chen X, Niu H, Zhou F, Zeng S, Fu Y, Liu J, Guo Y. Luo X, et al. Arch Gynecol Obstet. 2025 Dec;312(6):1991-2000. doi: 10.1007/s00404-025-08150-z. Epub 2025 Oct 22. Arch Gynecol Obstet. 2025. PMID: 41123664 Free PMC article.
OBJECTIVE: This retrospective study analyzed ultrasound findings, single nucleotide polymorphism microarray (SNP array) results, pregnancy outcomes, and postnatal follow-up data in fetuses with 15q13.3 deletions or duplications. METHODS: Six fetuses were diag …
OBJECTIVE: This retrospective study analyzed ultrasound findings, single nucleotide polymorphism microarray (SNP array) results, pregnancy o …
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, Lanpher B, Nagl S, Herding HS, Nevinny-Stickel C, Immken LL, Patel GS, German JR, Beaudet AL, Stankiewicz P. Shinawi M, et al. Nat Genet. 2009 Dec;41(12):1269-71. doi: 10.1038/ng.481. Epub 2009 Nov 8. Nat Genet. 2009. PMID: 19898479 Free PMC article.
We report a recurrent 680-kb deletion within chromosome 15q13.3 in ten individuals, from four unrelated families, with neurodevelopmental phenotypes including developmental delay, mental retardation and seizures. This deletion likely resulted from nona …
We report a recurrent 680-kb deletion within chromosome 15q13.3 in ten individuals, from four unrelated families, with …
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome.
Unda BK, Chalil L, Yoon S, Kilpatrick S, Irwin C, Xing S, Murtaza N, Cheng A, Brown C, Afonso A, McCready E, Ronen GM, Howe J, Caye-Eude A, Verloes A, Doble BW, Faivre L, Vitobello A, Scherer SW, Lu Y, Penzes P, Singh KK. Unda BK, et al. Mol Psychiatry. 2023 Apr;28(4):1747-1769. doi: 10.1038/s41380-022-01937-5. Epub 2023 Jan 6. Mol Psychiatry. 2023. PMID: 36604605 Free PMC article.
Copy number variations (CNVs) are associated with psychiatric and neurodevelopmental disorders (NDDs), and most, including the recurrent 15q13.3 microdeletion disorder, have unknown disease mechanisms. We used a heterozygous 15q13.3 microdeletion mouse …
Copy number variations (CNVs) are associated with psychiatric and neurodevelopmental disorders (NDDs), and most, including the recurrent …
195 results