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Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options.
Vos N, Kleinendorst L, van der Laan L, van Uhm J, Jansen PR, van Eeghen AM, Maas SM, Mannens MMAM, van Haelst MM. Vos N, et al. Eur J Hum Genet. 2024 Nov;32(11):1387-1401. doi: 10.1038/s41431-024-01601-2. Epub 2024 Apr 11. Eur J Hum Genet. 2024. PMID: 38605127 Free PMC article.
Various copy number variants (CNVs) of the chromosomal 16p11.2 region have been described. Most is known about the 'typical' 16p11.2 BP4-BP5 (29.6-30.2 Mb; ~600 kb) deletions and duplications, but there are also several published cohorts with mo …
Various copy number variants (CNVs) of the chromosomal 16p11.2 region have been described. Most is known about the 'typical' …
Estimates of penetrance for recurrent pathogenic copy-number variations.
Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG. Rosenfeld JA, et al. Genet Med. 2013 Jun;15(6):478-81. doi: 10.1038/gim.2012.164. Epub 2012 Dec 20. Genet Med. 2013. PMID: 23258348 Free PMC article.
Copy-number variations studied were 1q21.1 proximal duplications, 1q21.1 distal deletions and duplications, 15q11.2 deletions, 16p13.11 deletions, 16p12.1 deletions, 16p11.2 proximal and distal deletions and duplicati …
Copy-number variations studied were 1q21.1 proximal duplications, 1q21.1 distal deletions and duplications, 15q11.2 deletio …
The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements.
Mitrakos AK, Kosma K, Makrythanasis P, Tzetis M. Mitrakos AK, et al. Genes (Basel). 2024 Aug 10;15(8):1053. doi: 10.3390/genes15081053. Genes (Basel). 2024. PMID: 39202413 Free PMC article.
CNVs affecting the 16p11.2 region mainly affect a distal interval of ~220 Kb, between Breakpoints 2 and 3 (BP2-BP3), and a proximal interval of ~593 Kb (BP4-BP5). ...A total of 13 deletions and two duplications were identified, of which eight deleti …
CNVs affecting the 16p11.2 region mainly affect a distal interval of ~220 Kb, between Breakpoints 2 and 3 (BP2-BP3), an …
Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis.
Sadler B, Haller G, Antunes L, Bledsoe X, Morcuende J, Giampietro P, Raggio C, Miller N, Kidane Y, Wise CA, Amarillo I, Walton N, Seeley M, Johnson D, Jenkins C, Jenkins T, Oetjens M, Tong RS, Druley TE, Dobbs MB, Gurnett CA. Sadler B, et al. J Med Genet. 2019 Jul;56(7):427-433. doi: 10.1136/jmedgenet-2018-105877. Epub 2019 Feb 25. J Med Genet. 2019. PMID: 30803986 Free PMC article.
RESULTS: Distal chromosome 16p11.2 microduplications containing the gene SH2B1 were found in 0.7% of AIS cases (8/1197). ...CONCLUSIONS: Recurrent distal chromosome 16p11.2 duplications explain nearly 1% of AIS. Distal chrom …
RESULTS: Distal chromosome 16p11.2 microduplications containing the gene SH2B1 were found in 0.7% of AIS cases ( …
The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.
Woodbury-Smith M, D'Abate L, Stavropoulos DJ, Howe J, Drmic I, Hoang N, Zarrei M, Trost B, Iaboni A, Anagnostou E, Scherer SW. Woodbury-Smith M, et al. J Med Genet. 2023 Nov 27;60(12):1153-1160. doi: 10.1136/jmg-2022-108818. J Med Genet. 2023. PMID: 37290907 Free PMC article.
The third-born male offspring was only noted as having motor deficits and received a diagnosis of developmental coordination disorder. Other than the 16p11.2 distal deletion, no additional contributing variants of clinical significance were observed. . …
The third-born male offspring was only noted as having motor deficits and received a diagnosis of developmental coordination disorder. Other …
TAOK2 Drives Opposing Cilia Length Deficits in 16p11.2 Deletion and Duplication Carriers.
Ferreccio A, Byeon S, Cornell M, Oses-Prieto J, Deshpande A, Weiss LA, Burlingame A, Yadav S. Ferreccio A, et al. bioRxiv [Preprint]. 2024 Oct 7:2024.10.07.617069. doi: 10.1101/2024.10.07.617069. bioRxiv. 2024. Update in: Stem Cell Reports. 2025 Sep 9;20(9):102608. doi: 10.1016/j.stemcr.2025.102608. PMID: 39416068 Free PMC article. Updated. Preprint.
Copy number variation (CNV) in the 16p11.2 (BP4-BP5) genomic locus is strongly associated with autism. Carriers of 16p11.2 deletion and duplication exhibit several common behavioral and social impairments, yet, show opposing brain structural cha …
Copy number variation (CNV) in the 16p11.2 (BP4-BP5) genomic locus is strongly associated with autism. Carriers of 16p11 …
Implication of a rare deletion at distal 16p11.2 in schizophrenia.
Guha S, Rees E, Darvasi A, Ivanov D, Ikeda M, Bergen SE, Magnusson PK, Cormican P, Morris D, Gill M, Cichon S, Rosenfeld JA, Lee A, Gregersen PK, Kane JM, Malhotra AK, Rietschel M, Nöthen MM, Degenhardt F, Priebe L, Breuer R, Strohmaier J, Ruderfer DM, Moran JL, Chambert KD, Sanders AR, Shi J, Kendler K, Riley B, O'Neill T, Walsh D, Malhotra D, Corvin A, Purcell S, Sklar P, Iwata N, Hultman CM, Sullivan PF, Sebat J, McCarthy S, Gejman PV, Levinson DF, Owen MJ, O'Donovan MC, Lencz T, Kirov G; Molecular Genetics of Schizophrenia Consortium; Wellcome Trust Case Control Consortium 2. Guha S, et al. JAMA Psychiatry. 2013 Mar;70(3):253-60. doi: 10.1001/2013.jamapsychiatry.71. JAMA Psychiatry. 2013. PMID: 23325106 Free PMC article.
RESULTS: One novel locus was implicated: a deletion at distal 16p11.2, which does not overlap the proximal 16p11.2 locus previously reported in schizophrenia and autism. ...CONCLUSIONS: Deletions at distal 16p11.2 …
RESULTS: One novel locus was implicated: a deletion at distal 16p11.2, which does not overlap the proximal 16 …
Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.
Sønderby IE, Gústafsson Ó, Doan NT, Hibar DP, Martin-Brevet S, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn N, Blangero J, Boomsma DI, Bralten J, Brattbak HR, Brodaty H, Brouwer RM, Bülow R, Calhoun V, Caspers S, Cavalleri G, Chen CH, Cichon S, Ciufolini S, Corvin A, Crespo-Facorro B, Curran JE, Dale AM, Dalvie S, Dazzan P, de Geus EJC, de Zubicaray GI, de Zwarte SMC, Delanty N, den Braber A, Desrivières S, Donohoe G, Draganski B, Ehrlich S, Espeseth T, Fisher SE, Franke B, Frouin V, Fukunaga M, Gareau T, Glahn DC, Grabe H, Groenewold NA, Haavik J, Håberg A, Hashimoto R, Hehir-Kwa JY, Heinz A, Hillegers MHJ, Hoffmann P, Holleran L, Hottenga JJ, Hulshoff HE, Ikeda M, Jahanshad N, Jernigan T, Jockwitz C, Johansson S, Jonsdottir GA, Jönsson EG, Kahn R, Kaufmann T, Kelly S, Kikuchi M, Knowles EEM, Kolskår KK, Kwok JB, Hellard SL, Leu C, Liu J, Lundervold AJ, Lundervold A, Martin NG, Mather K, Mathias SR, McCormack M, McMahon KL, McRae A, Milaneschi Y, Moreau C, Morris D, Mothersill D, Mühleisen TW, Murray R, Nordvik JE, Nyberg L, Olde Loohuis LM, Ophoff R, Paus T, Pausova Z, Penninx B, Peralta JM, Pike B, Prieto C, Pudas S, Quinlan E, Quintana DS, Re… See abstract for full author list ➔ Sønderby IE, et al. Mol Psychiatry. 2020 Mar;25(3):584-602. doi: 10.1038/s41380-018-0118-1. Epub 2018 Oct 3. Mol Psychiatry. 2020. PMID: 30283035 Free PMC article.
Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 …
Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 …
The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome?
Barge-Schaapveld DQ, Maas SM, Polstra A, Knegt LC, Hennekam RC. Barge-Schaapveld DQ, et al. Am J Med Genet A. 2011 May;155A(5):1066-72. doi: 10.1002/ajmg.a.33991. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465664
Less frequently reported is a smaller 220 kb deletion, adjacent and distal to this 16p11.2 deletion, which has been referred to as the atypical 16p11.2 deletion (220 kb; 28.74 Mb to 28.95 Mb). ...As it may no longer be so …
Less frequently reported is a smaller 220 kb deletion, adjacent and distal to this 16p11.2 deletion, whic …
Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.
Blumenthal I, Ragavendran A, Erdin S, Klei L, Sugathan A, Guide JR, Manavalan P, Zhou JQ, Wheeler VC, Levin JZ, Ernst C, Roeder K, Devlin B, Gusella JF, Talkowski ME. Blumenthal I, et al. Am J Hum Genet. 2014 Jun 5;94(6):870-83. doi: 10.1016/j.ajhg.2014.05.004. Am J Hum Genet. 2014. PMID: 24906019 Free PMC article.
Reciprocal copy-number variation (CNV) of a 593 kb region of 16p11.2 is a common genetic cause of autism spectrum disorder (ASD), yet it is not completely penetrant and can manifest in a wide array of phenotypes. ...One of the most significant positional effects was …
Reciprocal copy-number variation (CNV) of a 593 kb region of 16p11.2 is a common genetic cause of autism spectrum disorder (AS …
44 results