{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T18:16:32Z","timestamp":1773771392332,"version":"3.50.1"},"reference-count":36,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2022,7]]},"DOI":"10.1016\/j.cca.2022.05.023","type":"journal-article","created":{"date-parts":[[2022,6,8]],"date-time":"2022-06-08T11:20:08Z","timestamp":1654687208000},"page":"137-144","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["Identification of two aberrant transcripts by RNA sequencing for a novel variant c.3354\u00a0+\u00a05 G\u00a0>\u00a0A of MED12 in a Chinese girl with non-syndromic intellectual disability"],"prefix":"10.1016","volume":"532","author":[{"given":"Xiufang","family":"Zhi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linjie","family":"Pu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaqiong","family":"Cui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Changshun","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Dong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunquan","family":"Cai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"24","key":"10.1016\/j.cca.2022.05.023_b0005","doi-asserted-by":"crossref","first-page":"1535","DOI":"10.1089\/scd.2020.0164","article-title":"Mediator's kinase module: a modular regulator of cell fate","volume":"29","author":"Straub","year":"2020","journal-title":"Stem Cells Dev."},{"issue":"6","key":"10.1016\/j.cca.2022.05.023_b0010","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1016\/j.stem.2016.08.004","article-title":"MED12 regulates HSC-specific enhancers independently of mediator kinase activity to control hematopoiesis","volume":"19","author":"Aranda-Orgilles","year":"2016","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.cca.2022.05.023_b0015","doi-asserted-by":"crossref","unstructured":"E. Rubinato, S. Rondeau, F. Giuliano, M. Kossorotoff, M. Parodi, S. Gherbi et al., MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review. Eur. J. Med. Genet 63(3)(2020)103768. https:\/\/10.1016\/j.ejmg.2019.103768.","DOI":"10.1016\/j.ejmg.2019.103768"},{"issue":"5","key":"10.1016\/j.cca.2022.05.023_b0020","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1111\/cge.13412","article-title":"The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders","volume":"94","author":"Charzewska","year":"2018","journal-title":"Clin. Genet."},{"key":"10.1016\/j.cca.2022.05.023_b0025","unstructured":"M.J. Lyons, MED12-Related Disorders(1993).Lyons MJ, MED12-Related Disorders. Jun 23, 2008[updated Aug 12, 2021], In: M.P. Adam, H.H. Ardinger, R.A. Pagon, S.E. Wallace, L.J.H. Bean, K.W. Gripp, G.M. Mirzaa, A. Amemiya (Eds.), GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132022."},{"issue":"9","key":"10.1016\/j.cca.2022.05.023_b0030","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1002\/ajmg.a.37805","article-title":"A novel MED12 mutation: evidence for a fourth phenotype","volume":"170","author":"Prontera","year":"2016","journal-title":"Am J Med Genet a"},{"issue":"4","key":"10.1016\/j.cca.2022.05.023_b0035","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1038\/s41436-020-01031-7","article-title":"De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females","volume":"23","author":"Li","year":"2021","journal-title":"Genet. Med."},{"issue":"4","key":"10.1016\/j.cca.2022.05.023_b0040","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1038\/s41436-020-01040-6","article-title":"De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females","volume":"23","author":"Polla","year":"2021","journal-title":"Genet. Med."},{"key":"10.1016\/j.cca.2022.05.023_b0045","doi-asserted-by":"crossref","unstructured":"S.V. Plassche, A.P. Brouwer, MED12-Related (Neuro)Developmental Disorders: A Question of Causality. Genes (Basel) 12(5)(2021)663. https:\/\/10.3390\/genes12050663.","DOI":"10.3390\/genes12050663"},{"issue":"2020","key":"10.1016\/j.cca.2022.05.023_b0050","doi-asserted-by":"crossref","first-page":"129","DOI":"10.3389\/fgene.2020.00129","article-title":"MED12-related disease in a Chinese girl","volume":"11","author":"Wang","year":"2020","journal-title":"Clin. Charact. Underl. Mech.. Front Genet"},{"issue":"12","key":"10.1016\/j.cca.2022.05.023_b0055","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1038\/ng.259","article-title":"Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing","volume":"40","author":"Pan","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.cca.2022.05.023_b0060","doi-asserted-by":"crossref","unstructured":"K. Hatje, R.U. Rahman, R.O. Vidal, D. Simm, B. Hammesfahr, V. Bansal et al., The landscape of human mutually exclusive splicing, Mol Syst Biol 13(12)(2017)959. https:\/\/10.15252\/msb.20177728.","DOI":"10.15252\/msb.20177728"},{"issue":"6","key":"10.1016\/j.cca.2022.05.023_b0065","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1016\/j.drudis.2019.03.030","article-title":"Alternative splicing, RNA-seq and drug discovery","volume":"24","author":"Zhao","year":"2019","journal-title":"Drug Discov. Today"},{"issue":"11","key":"10.1016\/j.cca.2022.05.023_b0070","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1101\/pdb.top084970","article-title":"RNA sequencing and analysis","volume":"2015","author":"Kukurba","year":"2015","journal-title":"Cold Spring Harb. Protoc."},{"issue":"5","key":"10.1016\/j.cca.2022.05.023_b0075","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"issue":"2","key":"10.1016\/j.cca.2022.05.023_b0080","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.gene.2005.07.015","article-title":"Characterization and prediction of alternative splice sites","volume":"366","author":"Wang","year":"2006","journal-title":"Gene"},{"key":"10.1016\/j.cca.2022.05.023_b0085","unstructured":"M.M. Thouin, J.M. Giron, E.P. Hoffman, Detection of nonrandom X chromosome inactivation, Curr. Protoc. Hum. Genet. Chapter 9(2003)Unit9.7. https:\/\/10.1002\/0471142905.hg0907s35."},{"key":"10.1016\/j.cca.2022.05.023_b0090","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0103714","article-title":"5meCpG epigenetic marks neighboring a primate-conserved core promoter short tandem repeat indicate X-chromosome inactivation","author":"Machado","year":"2014","journal-title":"PLoS ONE"},{"issue":"15","key":"10.1016\/j.cca.2022.05.023_b0095","doi-asserted-by":"crossref","first-page":"3472","DOI":"10.1182\/blood-2008-12-195677","article-title":"Skewing of X-inactivation ratios in blood cells of aging women is confirmed by independent methodologies","volume":"113","author":"Busque","year":"2009","journal-title":"Blood"},{"issue":"11","key":"10.1016\/j.cca.2022.05.023_b0100","doi-asserted-by":"crossref","first-page":"2734","DOI":"10.1002\/ajmg.a.36183","article-title":"MED12 related disorders","volume":"161A","author":"Graham","year":"2013","journal-title":"Am. J. Med. Genet A"},{"key":"10.1016\/j.cca.2022.05.023_b0105","doi-asserted-by":"crossref","unstructured":"H. Bouazzi, G. Lesca, C. Trujillo, M.K. Alwasiyah, A. Munnich, Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)], Clin. Case Rep. 3(7)(2015)604-609. https:\/\/10.1002\/ccr3.301.","DOI":"10.1002\/ccr3.301"},{"issue":"16","key":"10.1016\/j.cca.2022.05.023_b0110","doi-asserted-by":"crossref","first-page":"10564","DOI":"10.1093\/nar\/gku744","article-title":"A comprehensive survey of non-canonical splice sites in the human transcriptome","volume":"42","author":"Parada","year":"2014","journal-title":"Nucleic Acids Res."},{"issue":"3","key":"10.1016\/j.cca.2022.05.023_b0115","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s13353-018-0444-7","article-title":"Splicing mutations in human genetic disorders: examples, detection, and confirmation","volume":"59","author":"Anna","year":"2018","journal-title":"J. Appl. Genet."},{"issue":"16","key":"10.1016\/j.cca.2022.05.023_b0120","doi-asserted-by":"crossref","first-page":"6253","DOI":"10.1073\/pnas.87.16.6253","article-title":"Mechanism for cryptic splice site activation during pre-mRNA splicing","volume":"87","author":"Nelson","year":"1990","journal-title":"Proc. Natl. Acad. Sci. USA"},{"issue":"3","key":"10.1016\/j.cca.2022.05.023_b0125","first-page":"729","article-title":"Nonsense mutations and altered splice-site selection","volume":"60","author":"Dietz","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.cca.2022.05.023_b0130","doi-asserted-by":"crossref","unstructured":"A.S. Ramalho, S. Beck, D. Penque, T. Gonska, H.H. Seydewitz, M. Mall et al., Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers, J. Med. Genet. 40(7) (2003) e88. https:\/\/10.1136\/jmg.40.7.e88.","DOI":"10.1136\/jmg.40.7.e88"},{"issue":"3","key":"10.1016\/j.cca.2022.05.023_b0135","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1086\/342099","article-title":"Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I","volume":"71","author":"Takahara","year":"2002","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.cca.2022.05.023_b0140","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1038\/ejhg.2008.219","article-title":"Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda","volume":"17","author":"Xiong","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.cca.2022.05.023_b0145","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1038\/ejhg.2012.180","article-title":"Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy","volume":"21","author":"Sobczynska-Tomaszewska","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.cca.2022.05.023_b0150","doi-asserted-by":"crossref","unstructured":"M. Sune-Pou, S. Prieto-Sanchez, S. Boyero-Corral, C. Moreno-Castro, Y.Y. El, J.M. Sune-Negre et al., Targeting Splicing in the Treatment of Human Disease, Genes (Basel) 8(3) (2017) 87. https:\/\/10.3390\/genes8030087.","DOI":"10.3390\/genes8030087"},{"key":"10.1016\/j.cca.2022.05.023_b0155","doi-asserted-by":"crossref","unstructured":"N. Martinez-Montiel, N.H. Rosas-Murrieta, R.M. Anaya, E. Monjaraz-Guzman, R. Martinez-Contreras, Alternative splicing as a target for cancer treatment, Int. J. Mol. Sci. 19(2) (2018) 545. https:\/\/10.3390\/ijms19020545.","DOI":"10.3390\/ijms19020545"},{"issue":"12","key":"10.1016\/j.cca.2022.05.023_b0160","doi-asserted-by":"crossref","first-page":"3063","DOI":"10.1002\/ajmg.a.36162","article-title":"Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation","volume":"161A","author":"Lesca","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"issue":"1","key":"10.1016\/j.cca.2022.05.023_b0165","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-019-48385-w","article-title":"X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients","volume":"9","author":"Xiol","year":"2019","journal-title":"Sci. Rep."},{"key":"10.1016\/j.cca.2022.05.023_b0170","doi-asserted-by":"crossref","unstructured":"B.A. Brand, A.E. Blesson, C.L. Smith-Hicks, The impact of X-chromosome inactivation on phenotypic expression of X-linked neurodevelopmental disorders, Brain Sci. 11(7) (2021) 904. https:\/\/10.3390\/brainsci11070904.","DOI":"10.3390\/brainsci11070904"},{"issue":"6","key":"10.1016\/j.cca.2022.05.023_b0175","doi-asserted-by":"crossref","first-page":"1688","DOI":"10.1038\/s41433-020-01150-0","article-title":"A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation","volume":"35","author":"Wang","year":"2021","journal-title":"Eye (Lond)"},{"issue":"3","key":"10.1016\/j.cca.2022.05.023_b0180","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1111\/cga.12350","article-title":"A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12","volume":"60","author":"Murakami","year":"2020","journal-title":"Congenit. Anom. (Kyoto)"}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898122011767?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898122011767?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,14]],"date-time":"2025-09-14T15:06:22Z","timestamp":1757862382000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898122011767"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7]]},"references-count":36,"alternative-id":["S0009898122011767"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2022.05.023","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2022,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of two aberrant transcripts by RNA sequencing for a novel variant c.3354\u00a0+\u00a05 G\u00a0>\u00a0A of MED12 in a Chinese girl with non-syndromic intellectual disability","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2022.05.023","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}