{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T09:04:47Z","timestamp":1771578287376,"version":"3.50.1"},"reference-count":33,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,20]]},"DOI":"10.7759\/cureus.103945","type":"journal-article","created":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T08:20:47Z","timestamp":1771575647000},"source":"Crossref","is-referenced-by-count":0,"title":["Family-Based Interpretation of a Prenatally Detected 15q11.2 Duplication"],"prefix":"10.7759","author":[{"given":"Andreas E","family":"Spathi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stylianos","family":"Lagios","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vassilis","family":"Papanikolaou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charilaos","family":"Kostoulas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Athanasia","family":"Sesse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleni","family":"Theochari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theoni","family":"Leoutsakou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandros","family":"Psarris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Kavvadia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theano","family":"Stauroulaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aspasia","family":"Destouni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ioannis","family":"Georgiou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Pampanos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2004.08.006","article-title":"The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder","volume":"27","author":"Battaglia A","year":"2005","unstructured":"Battaglia A. The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder. Brain Dev. 2005, 27:365-9. 10.1016\/j.braindev.2004.08.006","journal-title":"Brain Dev"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.3390\/genes15101304","article-title":"Chromosome 15q11-q13 duplication syndrome: a review of the literature and 14 new cases","volume":"15","author":"Bisba M","year":"2024","unstructured":"Bisba M, Malamaki C, Constantoulakis P, Vittas S. Chromosome 15q11-q13 duplication syndrome: a review of the literature and 14 new cases. Genes (Basel). 2024, 15:1304. 10.3390\/genes15101304","journal-title":"Genes (Basel)"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.3390\/jcm9082602","article-title":"Should we report 15q11.2 BP1-BP2 deletions and duplications in the prenatal setting?","volume":"9","author":"Maya I","year":"2020","unstructured":"Maya I, Perlman S, Shohat M, et al.. Should we report 15q11.2 BP1-BP2 deletions and duplications in the prenatal setting?. J Clin Med. 2020, 9:2602. 10.3390\/jcm9082602","journal-title":"J Clin Med"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2021.754521","article-title":"The prenatal diagnosis and clinical outcomes of fetuses with 15q11.2 copy number variants: a case series of 36 patients","volume":"8","author":"Kang J","year":"2021","unstructured":"Kang J, Lee CN, Su YN, et al.. The prenatal diagnosis and clinical outcomes of fetuses with 15q11.2 copy number variants: a case series of 36 patients. Front Med (Lausanne). 2021, 8:754521. 10.3389\/fmed.2021.754521","journal-title":"Front Med (Lausanne)"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.3390\/genes12101480","article-title":"Adverse perinatal and early life outcomes following 15q11.2 CNV diagnosis","volume":"12","author":"Chu FC","year":"2021","unstructured":"Chu FC, Shaw SW, Lee CH, Lo LM, Hsu JJ, Hung TH. Adverse perinatal and early life outcomes following 15q11.2 CNV diagnosis. Genes (Basel). 2021, 12:1480. 10.3390\/genes12101480","journal-title":"Genes (Basel)"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.31055","article-title":"A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder","volume":"153B","author":"van der Zwaag B","year":"2010","unstructured":"van der Zwaag B, Staal WG, Hochstenbach R, et al.. A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet. 2010, 153B:960-6. 10.1002\/ajmg.b.31055","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-0970-4","article-title":"Microdeletion\/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay","volume":"130","author":"Burnside RD","year":"2011","unstructured":"Burnside RD, Pasion R, Mikhail FM, et al.. Microdeletion\/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet. 2011, 130:517-28. 10.1007\/s00439-011-0970-4","journal-title":"Hum Genet"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1159\/000468192","article-title":"Variable penetrance of the 15q11.2 BP1-BP2 microduplication in a family with cognitive and language impairment","volume":"8","author":"Ben\u00edtez-Burraco A","year":"2017","unstructured":"Ben\u00edtez-Burraco A, Barcos-Mart\u00ednez M, Espejo-Portero I, Jim\u00e9nez-Romero S. Variable penetrance of the 15q11.2 BP1-BP2 microduplication in a family with cognitive and language impairment. Mol Syndromol. 2017, 8:139-47. 10.1159\/000468192","journal-title":"Mol Syndromol"},{"key":"ref9","article-title":"Autism or atypical autism in maternally but not paternally derived proximal 15q duplication","volume":"60","author":"Cook EH Jr","year":"1997","unstructured":"Cook EH Jr, Lindgren V, Leventhal BL, et al.. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet. 1997, 60:928-34.","journal-title":"Am J Hum Genet"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.043166","article-title":"Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders","volume":"43","author":"Jacquemont ML","year":"2006","unstructured":"Jacquemont ML, Sanlaville D, Redon R, et al.. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet. 2006, 43:843-9. 10.1136\/jmg.2006.043166","journal-title":"J Med Genet"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1176\/appi.ajp.2010.09111660","article-title":"Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness","volume":"168","author":"Ingason A","year":"2011","unstructured":"Ingason A, Kirov G, Giegling I, et al.. Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness. Am J Psychiatry. 2011, 168:408-17. 10.1176\/appi.ajp.2010.09111660","journal-title":"Am J Psychiatry"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/aur.1284","article-title":"The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature","volume":"6","author":"Urraca N","year":"2013","unstructured":"Urraca N, Cleary J, Brewer V, et al.. The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature. Autism Res. 2013, 6:268-79. 10.1002\/aur.1284","journal-title":"Autism Res"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2008.08.011","article-title":"The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13","volume":"38","author":"Hogart A","year":"2010","unstructured":"Hogart A, Wu D, LaSalle JM, Schanen NC. The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiol Dis. 2010, 38:181-91. 10.1016\/j.nbd.2008.08.011","journal-title":"Neurobiol Dis"},{"key":"ref14","unstructured":"Clinical Genome Resource. 15q11.2 recurrent region (BP1-BP2) (includes NIPA1) curation results for dosage sensitivity. (2025). Accessed: October 12, 2025: https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37448."},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3092","article-title":"Refining analyses of copy number variation identifies specific genes associated with developmental delay","volume":"46","author":"Coe BP","year":"2014","unstructured":"Coe BP, Witherspoon K, Rosenfeld JA, et al.. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet. 2014, 46:1063-71. 10.1038\/ng.3092","journal-title":"Nat Genet"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1192\/bjp.2018.301","article-title":"Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank","volume":"214","author":"Kendall KM","year":"2019","unstructured":"Kendall KM, Bracher-Smith M, Fitzpatrick H, et al.. Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank. Br J Psychiatry. 2019, 214:297-304. 10.1192\/bjp.2018.301","journal-title":"Br J Psychiatry"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1001\/jamapsychiatry.2019.3779","article-title":"Association of copy number variation of the 15q11.2 BP1-BP2 region with cortical and subcortical morphology and cognition","volume":"77","author":"van der Meer D","year":"2020","unstructured":"van der Meer D, S\u00f8nderby IE, Kaufmann T, et al.. Association of copy number variation of the 15q11.2 BP1-BP2 region with cortical and subcortical morphology and cognition. JAMA Psychiatry. 2020, 77:420-30. 10.1001\/jamapsychiatry.2019.3779","journal-title":"JAMA Psychiatry"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32480","article-title":"Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders","volume":"171","author":"Picinelli C","year":"2016","unstructured":"Picinelli C, Lintas C, Piras IS, Gabriele S, Sacco R, Brogna C, Persico AM. Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2016, 171:1088-98. 10.1002\/ajmg.b.32480","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.12.003","article-title":"Rare missense TUBGCP5 gene variant in a patient with primary microcephaly","volume":"62","author":"Maver A","year":"2019","unstructured":"Maver A, \u010cuturilo G, Kovanda A, Mileti\u0107 A, Peterlin B. Rare missense TUBGCP5 gene variant in a patient with primary microcephaly. Eur J Med Genet. 2019, 62:103598. 10.1016\/j.ejmg.2018.12.003","journal-title":"Eur J Med Genet"},{"key":"ref20","unstructured":"NCBI Gene. TUBGCP5 tubulin gamma complex component 5 [Homo sapiens (human)]. (2025). Accessed: October 13, 2025: https:\/\/www.ncbi.nlm.nih.gov\/gene\/114791."},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.025809","article-title":"New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes","volume":"10","author":"Abekhoukh S","year":"2017","unstructured":"Abekhoukh S, Sahin HB, Grossi M, et al.. New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes. Dis Model Mech. 2017, 10:463-74. 10.1242\/dmm.025809","journal-title":"Dis Model Mech"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-11203-y","article-title":"The autism- and schizophrenia-associated protein CYFIP1 regulates bilateral brain connectivity and behaviour","volume":"10","author":"Dom\u00ednguez-Iturza N","year":"2019","unstructured":"Dom\u00ednguez-Iturza N, Lo AC, Shah D, et al.. The autism- and schizophrenia-associated protein CYFIP1 regulates bilateral brain connectivity and behaviour. Nat Commun. 2019, 10:3454. 10.1038\/s41467-019-11203-y","journal-title":"Nat Commun"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1159\/000506858","article-title":"FMRP and CYFIP1 at the synapse and their role in psychiatric vulnerability","volume":"6","author":"Clifton NE","year":"2020","unstructured":"Clifton NE, Thomas KL, Wilkinson LS, Hall J, Trent S. FMRP and CYFIP1 at the synapse and their role in psychiatric vulnerability. Complex Psychiatry. 2020, 6:5-19. 10.1159\/000506858","journal-title":"Complex Psychiatry"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21093296","article-title":"The 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome: in silico analyses of the four coding genes reveal functional associations with neurodevelopmental phenotypes","volume":"21","author":"Rafi SK","year":"2020","unstructured":"Rafi SK, Butler MG. The 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome: in silico analyses of the four coding genes reveal functional associations with neurodevelopmental phenotypes. Int J Mol Sci. 2020, 21:3296. 10.3390\/ijms21093296","journal-title":"Int J Mol Sci"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00238.2007","article-title":"Identification and characterization of a novel family of membrane magnesium transporters, MMgT1 and MMgT2","volume":"294","author":"Goytain A","year":"2008","unstructured":"Goytain A, Quamme GA. Identification and characterization of a novel family of membrane magnesium transporters, MMgT1 and MMgT2. Am J Physiol Cell Physiol. 2008, 294:C495-502. 10.1152\/ajpcell.00238.2007","journal-title":"Am J Physiol Cell Physiol"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1086\/378817","article-title":"NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)","volume":"73","author":"Rainier S","year":"2003","unstructured":"Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am J Hum Genet. 2003, 73:967-71. 10.1086\/378817","journal-title":"Am J Hum Genet"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51724","article-title":"Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia","volume":"10","author":"Fang SY","year":"2023","unstructured":"Fang SY, Chou YT, Hsu KC, et al.. Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia. Ann Clin Transl Neurol. 2023, 10:353-62. 10.1002\/acn3.51724","journal-title":"Ann Clin Transl Neurol"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0109749","article-title":"Functional study of NIPA2 mutations identified from the patients with childhood absence epilepsy","volume":"9","author":"Xie H","year":"2014","unstructured":"Xie H, Zhang Y, Zhang P, et al.. Functional study of NIPA2 mutations identified from the patients with childhood absence epilepsy. PLoS One. 2014, 9:e109749. 10.1371\/journal.pone.0109749","journal-title":"PLoS One"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1111\/cns.13119","article-title":"The absence of NIPA2 enhances neural excitability through BK (big potassium) channels","volume":"25","author":"Liu NN","year":"2019","unstructured":"Liu NN, Xie H, Xiang-Wei WS, Gao K, Wang TS, Jiang YW. The absence of NIPA2 enhances neural excitability through BK (big potassium) channels. CNS Neurosci Ther. 2019, 25:865-75. 10.1111\/cns.13119","journal-title":"CNS Neurosci Ther"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1414-0","article-title":"Does variation in NIPA2 contribute to genetic generalized epilepsy?","volume":"133","author":"Hildebrand MS","year":"2014","unstructured":"Hildebrand MS, Damiano JA, Mullen SA, Bellows ST, Scheffer IE, Berkovic SF. Does variation in NIPA2 contribute to genetic generalized epilepsy?. Hum Genet. 2014, 133:673-4. 10.1007\/s00439-013-1414-0","journal-title":"Hum Genet"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24054271","article-title":"Prader-Willi syndrome and chromosome 15q11.2 BP1-BP2 region: a review","volume":"24","author":"Butler MG","year":"2023","unstructured":"Butler MG. Prader-Willi syndrome and chromosome 15q11.2 BP1-BP2 region: a review. Int J Mol Sci. 2023, 24:4271. 10.3390\/ijms24054271","journal-title":"Int J Mol Sci"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1086\/378816","article-title":"Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi\/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons","volume":"73","author":"Chai JH","year":"2003","unstructured":"Chai JH, Locke DP, Greally JM, et al.. Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi\/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. Am J Hum Genet. 2003, 73:898-925. 10.1086\/378816","journal-title":"Am J Hum Genet"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-0424","article-title":"Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome","volume":"118","author":"Bittel DC","year":"2006","unstructured":"Bittel DC, Kibiryeva N, Butler MG. Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome. Pediatrics. 2006, 118:e1276-83. 10.1542\/peds.2006-0424","journal-title":"Pediatrics"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/458605-family-based-interpretation-of-a-prenatally-detected-15q112-duplication","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T08:20:48Z","timestamp":1771575648000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/458605-family-based-interpretation-of-a-prenatally-detected-15q112-duplication"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,20]]},"references-count":33,"URL":"https:\/\/doi.org\/10.7759\/cureus.103945","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2026,2,20]]}}}