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The complex behavioral phenotype of 15q13.3 microdeletion syndrome.
Ziats MN, Goin-Kochel RP, Berry LN, Ali M, Ge J, Guffey D, Rosenfeld JA, Bader P, Gambello MJ, Wolf V, Penney LS, Miller R, Lebel RR, Kane J, Bachman K, Troxell R, Clark G, Minard CG, Stankiewicz P, Beaudet A, Schaaf CP. Ziats MN, et al. Genet Med. 2016 Nov;18(11):1111-1118. doi: 10.1038/gim.2016.9. Epub 2016 Mar 10. Genet Med. 2016. PMID: 26963284 Free article.
Autism spectrum disorder was highly penetrant, with 31% of patients meeting clinical criteria and exceeding cutoff scores on both ADOS-2 and ADI-R. Affected individuals exhibited a complex pattern of behavioral abnormalities, most notably hyperactivity, attention problems, …
Autism spectrum disorder was highly penetrant, with 31% of patients meeting clinical criteria and exceeding cutoff scores on both ADO …
Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons.
Zhang S, Zhang X, Purmann C, Ma S, Shrestha A, Davis KN, Ho M, Huang Y, Pattni R, Wong WH, Bernstein JA, Hallmayer J, Urban AE. Zhang S, et al. Biol Psychiatry. 2021 Mar 1;89(5):497-509. doi: 10.1016/j.biopsych.2020.06.021. Epub 2020 Jul 1. Biol Psychiatry. 2021. PMID: 32919612 Free PMC article.
RESULTS: In both induced pluripotent stem cells and induced neurons, gene copy number change within the 15q13.3 microdeletion was accompanied by significantly decreased gene expression and no compensatory changes in DNA methylation or chromatin accessibility, supporting the model …
RESULTS: In both induced pluripotent stem cells and induced neurons, gene copy number change within the 15q13.3 microdeletion was accompanie …
The spectrum of epilepsy in children with 15q13.3 microdeletion syndrome.
Whitney R, Nair A, McCready E, Keller AE, Adil IS, Aziz AS, Borys O, Siu K, Shah C, Meaney BF, Jones K, RamachandranNair R. Whitney R, et al. Seizure. 2021 Nov;92:221-229. doi: 10.1016/j.seizure.2021.09.016. Epub 2021 Sep 26. Seizure. 2021. PMID: 34601452 Free article.
CONCLUSIONS: The epilepsy phenotype in children with 15q13.3 microdeletion syndrome is defined by childhood onset absence seizures, and may have atypical features such as, early onset absences, persistence into adolescence, status epilepticus, intellectual disability and treatmen …
CONCLUSIONS: The epilepsy phenotype in children with 15q13.3 microdeletion syndrome is defined by childhood onset absence seizures, and may …
Screening for Copy Number Variations of the 15q13.3 Hotspot in CHRNA7 Gene and Expression in Patients with Migraines.
Özaltun MF, Geyik S, Yılmaz ŞG. Özaltun MF, et al. Curr Issues Mol Biol. 2021 Sep 7;43(2):1090-1113. doi: 10.3390/cimb43020078. Curr Issues Mol Biol. 2021. PMID: 34563047 Free PMC article.
A decreased copy number indicates a dosage loss. However, no significant difference was observed among gain, normal, and loss copy numbers and expression values in patients (p > 0.05). ...
A decreased copy number indicates a dosage loss. However, no significant difference was observed among gain, normal, and loss copy nu …
A mouse model that recapitulates cardinal features of the 15q13.3 microdeletion syndrome including schizophrenia- and epilepsy-related alterations.
Fejgin K, Nielsen J, Birknow MR, Bastlund JF, Nielsen V, Lauridsen JB, Stefansson H, Steinberg S, Sorensen HB, Mortensen TE, Larsen PH, Klewe IV, Rasmussen SV, Stefansson K, Werge TM, Kallunki P, Christensen KV, Didriksen M. Fejgin K, et al. Biol Psychiatry. 2014 Jul 15;76(2):128-37. doi: 10.1016/j.biopsych.2013.08.014. Epub 2013 Oct 3. Biol Psychiatry. 2014. PMID: 24090792
Electroencephalogram characterization revealed auditory processing deficits similar to those observed in schizophrenia. Gamma band power was increased during active state, but evoked gamma power following auditory stimulus (40 Hz) was dramatically reduced, mirroring obs …
Electroencephalogram characterization revealed auditory processing deficits similar to those observed in schizophrenia. Gamma band po …
Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome.
Le Pichon JB, Yu S, Kibiryeva N, Graf WD, Bittel DC. Le Pichon JB, et al. Eur J Hum Genet. 2013 Oct;21(10):1093-9. doi: 10.1038/ejhg.2013.1. Epub 2013 Jan 30. Eur J Hum Genet. 2013. PMID: 23361223 Free PMC article.
In this paper, we probed the role of downstream effects of the deletions as a contributing mechanism to the molecular basis of the observed phenotype. We analyzed gene expression of lymphoblastoid cells derived from peripheral blood of the proband and his relatives to asce …
In this paper, we probed the role of downstream effects of the deletions as a contributing mechanism to the molecular basis of the observ …
Dosage-sensitivity of imprinted genes expressed in the brain: 15q11-q13 and neuropsychiatric illness.
McNamara GI, Isles AR. McNamara GI, et al. Biochem Soc Trans. 2013 Jun;41(3):721-6. doi: 10.1042/BST20130008. Biochem Soc Trans. 2013. PMID: 23697931 Review.
In the present paper, we discuss the consequence of increased dosage of imprinted genes for brain function, focusing on the PWS (Prader-Willi syndrome) locus on human chromosome 15q11-q13 and how predicted increases in dosage of maternally expressed imprinted genes from th …
In the present paper, we discuss the consequence of increased dosage of imprinted genes for brain function, focusing on the PWS (Prader-Will …
Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy.
Pavone P, Ruggieri M, Marino SD, Corsello G, Pappalardo X, Polizzi A, Parano E, Romano C, Marino S, Praticò AD, Falsaperla R. Pavone P, et al. Mol Genet Genomic Med. 2020 Apr;8(4):e1109. doi: 10.1002/mgg3.1109. Epub 2020 Jan 28. Mol Genet Genomic Med. 2020. PMID: 31991071 Free PMC article.
The deletion at BP4-BP5 is the rearrangement most frequently observed compared to other known deletions in BP3-BP5 and BP3-BP4 regions. ...RESULTS: Array-CGH analysis revealed in the mother (case 1) and in her three children (cases 2, 3, and 4), as well as in the unrelated …
The deletion at BP4-BP5 is the rearrangement most frequently observed compared to other known deletions in BP3-BP5 and BP3-BP4 region …
Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.
Tai DJ, Ragavendran A, Manavalan P, Stortchevoi A, Seabra CM, Erdin S, Collins RL, Blumenthal I, Chen X, Shen Y, Sahin M, Zhang C, Lee C, Gusella JF, Talkowski ME. Tai DJ, et al. Nat Neurosci. 2016 Mar;19(3):517-22. doi: 10.1038/nn.4235. Epub 2016 Feb 1. Nat Neurosci. 2016. PMID: 26829649 Free PMC article.
We describe here a CRISPR/Cas9 genome engineering method, single-guide CRISPR/Cas targeting of repetitive elements (SCORE), to model reciprocal genomic disorders and demonstrate its capabilities by generating reciprocal CNVs of 16p11.2 and 15q13.3, including alteration of …
We describe here a CRISPR/Cas9 genome engineering method, single-guide CRISPR/Cas targeting of repetitive elements (SCORE), to model …
Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells.
Gillentine MA, Yin J, Bajic A, Zhang P, Cummock S, Kim JJ, Schaaf CP. Gillentine MA, et al. Am J Hum Genet. 2017 Dec 7;101(6):874-887. doi: 10.1016/j.ajhg.2017.09.024. Epub 2017 Nov 9. Am J Hum Genet. 2017. PMID: 29129316 Free PMC article.
CHRNA7, encoding for the alpha7 nicotinic acetylcholine receptor (nAChR), has been suggested as a candidate gene for the phenotypes observed. Here, we used induced pluripotent stem cells (iPSCs) and neural progenitor cells (NPCs) derived from individuals with heterozygous …
CHRNA7, encoding for the alpha7 nicotinic acetylcholine receptor (nAChR), has been suggested as a candidate gene for the phenotypes obser …
11 results