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2014 12
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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 …
16p11.2 deletion syndrome.
Chung WK, Roberts TP, Sherr EH, Snyder LG, Spiro JE. Chung WK, et al. Curr Opin Genet Dev. 2021 Jun;68:49-56. doi: 10.1016/j.gde.2021.01.011. Epub 2021 Mar 2. Curr Opin Genet Dev. 2021. PMID: 33667823 Free PMC article. Review.
The 16p11.2 BP4 and BP5 region, is a recurrent 600kb copy number variant (CNV), and deletions are one of the most frequent etiologies of neurodevelopmental disorders and autism spectrum disorder with an incidence of approximately 1/2000. Deletion carri …
The 16p11.2 BP4 and BP5 region, is a recurrent 600kb copy number variant (CNV), and deletions are one of the most frequ …
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, 15q13.3 m …
Genetically modified models include those based on well-studied monogenic ASD genes (NLGN3, NLGN4, NRXN1, CNTNAP2, SHANK3, MECP2, FMR1, TSC1 …
16p11.2 Copy Number Variations and Neurodevelopmental Disorders.
Rein B, Yan Z. Rein B, et al. Trends Neurosci. 2020 Nov;43(11):886-901. doi: 10.1016/j.tins.2020.09.001. Epub 2020 Sep 28. Trends Neurosci. 2020. PMID: 32993859 Free PMC article. Review.
In this review, we delineate genetic information and diverse phenotypes in individuals with 16p11.2 CNVs, and synthesize preclinical findings from transgenic mouse models of 16p11.2 CNVs. Mice with 16p11.2 deletions or duplications …
In this review, we delineate genetic information and diverse phenotypes in individuals with 16p11.2 CNVs, and synthesize precl …
The individual and global impact of copy-number variants on complex human traits.
Auwerx C, Lepamets M, Sadler MC, Patxot M, Stojanov M, Baud D, Mägi R; Estonian Biobank Research Team; Porcu E, Reymond A, Kutalik Z. Auwerx C, et al. Am J Hum Genet. 2022 Apr 7;109(4):647-668. doi: 10.1016/j.ajhg.2022.02.010. Epub 2022 Mar 2. Am J Hum Genet. 2022. PMID: 35240056 Free PMC article.
., 1q21 and height), revealed the pleiotropy of recurrent CNVs (e.g., 26 and 16 traits for 16p11.2-BP4-BP5 and 22q11.21, respectively), and suggested gene functionalities (e.g., MARF1 in female reproduction). Forty-eight CNV signals (38%) overlapped with sing …
., 1q21 and height), revealed the pleiotropy of recurrent CNVs (e.g., 26 and 16 traits for 16p11.2-BP4-BP5 and 22q11.21, respe …
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang F. Wu N, et al. N Engl J Med. 2015 Jan 22;372(4):341-50. doi: 10.1056/NEJMoa1406829. Epub 2015 Jan 7. N Engl J Med. 2015. PMID: 25564734 Free PMC article.
These null alleles include copy-number variants (12 instances of a 16p11.2 deletion affecting TBX6) and single-nucleotide variants (1 nonsense and 4 frame-shift mutations). However, the discordant intrafamilial phenotypes of 16p11.2 deletion
These null alleles include copy-number variants (12 instances of a 16p11.2 deletion affecting TBX6) and single-nucleoti …
The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, Mitrotti A, Fasel DA, Batourina E, Sampson MG, Bodria M, Werth M, Kao C, Martino J, Capone VP, Vivante A, Shril S, Kil BH, Marasà M, Zhang JY, Na YJ, Lim TY, Ahram D, Weng PL, Heinzen EL, Carrea A, Piaggio G, Gesualdo L, Manca V, Masnata G, Gigante M, Cusi D, Izzi C, Scolari F, van Wijk JAE, Saraga M, Santoro D, Conti G, Zamboli P, White H, Drozdz D, Zachwieja K, Miklaszewska M, Tkaczyk M, Tomczyk D, Krakowska A, Sikora P, Jarmoliński T, Borszewska-Kornacka MK, Pawluch R, Szczepanska M, Adamczyk P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Dobson MG, Darlow JM, Puri P, Barton DE, Furth SL, Warady BA, Gucev Z, Lozanovski VJ, Tasic V, Pisani I, Allegri L, Rodas LM, Campistol JM, Jeanpierre C, Alam S, Casale P, Wong CS, Lin F, Miranda DM, Oliveira EA, Simões-E-Silva AC, Barasch JM, Levy B, Wu N, Hildebrandt F, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Zhang F, Hakonarson H, Papaioannou VE, Mendelsohn CL, Gharavi AG, Sanna-Cherchi S. Verbitsky M, et al. Nat Genet. 2019 Jan;51(1):117-127. doi: 10.1038/s41588-018-0281-y. Epub 2018 Dec 21. Nat Genet. 2019. PMID: 30578417 Free PMC article.
Six loci (1q21, 4p16.1-p16.3, 16p11.2, 16p13.11, 17q12 and 22q11.2) accounted for 65% of patients with GD-CNVs. Deletions at 17q12, 4p16.1-p16.3 and 22q11.2 were specific for KA; the 16p11.2 locus showed extensive pleiotropy. ...
Six loci (1q21, 4p16.1-p16.3, 16p11.2, 16p13.11, 17q12 and 22q11.2) accounted for 65% of patients with GD-CNVs. Deletions
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M; Epi25 Collaborative; Helbig I, Leu C, Lal D. Montanucci L, et al. Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6. Nat Commun. 2023. PMID: 37474567 Free PMC article.
With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of w …
With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16 …
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF 3rd, Klei L, Mandell JD, Moreno-De-Luca D, Poultney CS, Robinson EB, Smith L, Solli-Nowlan T, Su MY, Teran NA, Walker MF, Werling DM, Beaudet AL, Cantor RM, Fombonne E, Geschwind DH, Grice DE, Lord C, Lowe JK, Mane SM, Martin DM, Morrow EM, Talkowski ME, Sutcliffe JS, Walsh CA, Yu TW; Autism Sequencing Consortium; Ledbetter DH, Martin CL, Cook EH, Buxbaum JD, Daly MJ, Devlin B, Roeder K, State MW. Sanders SJ, et al. Neuron. 2015 Sep 23;87(6):1215-1233. doi: 10.1016/j.neuron.2015.09.016. Neuron. 2015. PMID: 26402605 Free PMC article.
Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q11.2-13, and 22q …
Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong ass …
16p11.2 deletion accelerates subpallial maturation and increases variability in human iPSC-derived ventral telencephalic organoids.
Fetit R, Barbato MI, Theil T, Pratt T, Price DJ. Fetit R, et al. Development. 2023 Feb 15;150(4):dev201227. doi: 10.1242/dev.201227. Epub 2023 Feb 24. Development. 2023. PMID: 36826401 Free PMC article.
Inhibitory interneurons regulate cortical circuit activity, and their dysfunction has been implicated in autism spectrum disorder (ASD). 16p11.2 microdeletions are genetically linked to 1% of ASD cases. ...Cell cycle analysis revealed an increase in total cell cycle …
Inhibitory interneurons regulate cortical circuit activity, and their dysfunction has been implicated in autism spectrum disorder (ASD). …
248 results