{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T05:36:19Z","timestamp":1781242579686,"version":"3.54.1"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,10,22]],"date-time":"2020-10-22T00:00:00Z","timestamp":1603324800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>Deletions and pathogenic sequence variants in Myeloid Ecotropic Insertion Site 2 (<jats:italic>MEIS2<\/jats:italic>) gene have been reported to cause a recognizable triad of intellectual disability, congenital heart malformations, and palatal defects. To date, 18 individuals with de novo pathogenic sequence variants in <jats:italic>MEIS2<\/jats:italic> have been reported in the literature, most with all three cardinal features. We recently saw a young boy, almost 3\u2009years of age, who was known to have mosaic XYY syndrome (47,XYY [23]\/46,XY[7]). He presented with atrial and ventricular septal defects, developmental delay, facial dysmorphism, gastroesophageal reflux, undescended testicle, a buried penis with penoscrotal transposition, primary neutropenia, and a branchial cleft sinus. Whole\u2010exome sequencing identified a previously reported in\u2010frame pathogenic deletion (c.998_1000delGAA; p.R333del; NM_170674.4) in <jats:italic>MEIS2<\/jats:italic>. His unaffected father was confirmed to have low\u2010level mosaicism for the same <jats:italic>MEIS2<\/jats:italic> variant. The proband represents the 19th reported individual with a pathogenic sequence variant in <jats:italic>MEIS2<\/jats:italic> and expands the phenotypic spectrum to include primary neutropenia, branchial anomalies, and complex genital anomalies. Furthermore, to our knowledge this is the first reported case of mosaicism for a variant in this gene in an apparently unaffected parent. This finding would have implications for recurrence risk counseling for families.<\/jats:p>","DOI":"10.1002\/ajmg.a.61929","type":"journal-article","created":{"date-parts":[[2020,10,22]],"date-time":"2020-10-22T17:37:52Z","timestamp":1603388272000},"page":"300-303","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["<scp><i>MEIS2<\/i><\/scp> sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of <scp>low\u2010level<\/scp> mosaicism in an unaffected parent"],"prefix":"10.1002","volume":"185","author":[{"given":"Julia X.","family":"Su","sequence":"first","affiliation":[{"name":"Genetics Program, North York General Hospital  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lea S.","family":"Velsher","sequence":"additional","affiliation":[{"name":"Genetics Program, North York General Hospital  Toronto Canada"},{"name":"Department of Laboratory Medicine University of Toronto  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Juusola","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3570-2155","authenticated-orcid":false,"given":"Marjan M.","family":"Nezarati","sequence":"additional","affiliation":[{"name":"Genetics Program, North York General Hospital  Toronto Canada"},{"name":"Department of Paediatrics University of Toronto  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,10,22]]},"reference":[{"key":"e_1_2_1_3_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12947"},{"key":"e_1_2_1_3_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.05.037"},{"key":"e_1_2_1_3_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(68)91622-X"},{"key":"e_1_2_1_3_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40368"},{"key":"e_1_2_1_3_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31541"},{"key":"e_1_2_1_3_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.54"},{"key":"e_1_2_1_3_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.01.017"},{"key":"e_1_2_1_3_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000009441"},{"key":"e_1_2_1_3_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36498"},{"key":"e_1_2_1_3_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_1_3_12_1","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1002\/ajmg.a.36989","article-title":"MEIS2 involvement in cardiac development, cleft palate, and intellectual disability","volume":"167","author":"Louw J. J.","year":"2012","journal-title":"American Journal of Medical Genetics Part A"},{"key":"e_1_2_1_3_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-017-0535-3"},{"key":"e_1_2_1_3_14_1","first-page":"278","article-title":"Heterozygous loss\u2010of\u2010function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability","volume":"27","author":"Verheije R.","year":"2019","journal-title":"European Journal of Medical Genetics"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61929","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61929","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61929","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T07:04:40Z","timestamp":1693811080000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61929"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,22]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["10.1002\/ajmg.a.61929"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61929","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,22]]},"assertion":[{"value":"2020-04-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}