{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T14:53:47Z","timestamp":1789916027024,"version":"4.0.1"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,2,17]],"date-time":"2017-02-17T00:00:00Z","timestamp":1487289600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004156","name":"Mahidol University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004156","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:sec><jats:label\/><jats:p><jats:italic>GATAD2B<\/jats:italic> gene is involved in chromatin modification and transcription activity. Loss\u2010of\u2010function mutations of <jats:italic>GATAD2B<\/jats:italic> have recently been defined to cause a recognizable syndrome with intellectual disability (ID). Human <jats:italic>TPM3<\/jats:italic> gene encoding thin filament protein is associated with myopathies. Both genes are located on chromosome 1q21.3. We herein report an infant with feeding difficulty, developmental delay, hypotonia, and dysmorphic features including small palpebral fissures, telecanthus, sparse hair and eyebrow, cup\u2010shaped ears, and clinodactyly. Karyotype was normal. Single nucleotide polymorphism array revealed a 1.06\u2009Mb deletion of chromosome 1q21.3, which was confirmed to be de novo. The deleted region encompassed 35 genes, including three known disease\u2010associated genes, namely <jats:italic>GATAD2B, TPM3<\/jats:italic>, and <jats:italic>HAX1<\/jats:italic>. We further identify and summarize seven additional patients with 1q21.3 microdeletion from literature review and clinical databases (DECIPHER, ISCA\/ClinGen). Genomic location analysis of all eight patients revealed different breakpoints and no segmental duplication, indicating that non\u2010homologous end joining is a likely mechanism underlying this particular microdeletion. This data suggests that 1q21.3 microdeletion is a recurrent microdeletion syndrome with distinguishable phenotypes, and loss of function of <jats:italic>GATAD2B<\/jats:italic> is the major contributor of the characteristic facies and ID. Additionally, the deletion of <jats:italic>TPM3<\/jats:italic> warrants a risk of concomitant muscle disease in our patient. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38082","type":"journal-article","created":{"date-parts":[[2017,2,17]],"date-time":"2017-02-17T13:51:08Z","timestamp":1487339468000},"page":"766-770","source":"Crossref","is-referenced-by-count":13,"title":["1q21.3 deletion involving <i>GATAD2B<\/i>: An emerging recurrent microdeletion syndrome"],"prefix":"10.1002","volume":"173","author":[{"given":"Thipwimol","family":"Tim\u2010Aroon","sequence":"first","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics Faculty of Medicine Ramathibodi Hospital Mahidol University Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natini","family":"Jinawath","sequence":"additional","affiliation":[{"name":"Program in Translational Medicine Faculty of Medicine Ramathibodi Hospital Mahidol University Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weerin","family":"Thammachote","sequence":"additional","affiliation":[{"name":"Program in Translational Medicine Faculty of Medicine Ramathibodi Hospital Mahidol University Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Praweena","family":"Sinpitak","sequence":"additional","affiliation":[{"name":"DNA Center Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anchalee","family":"Limrungsikul","sequence":"additional","affiliation":[{"name":"Division of Neonatology Department of Pediatrics Faculty of Medicine Ramathibodi Hospital Mahidol University Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaiyos","family":"Khongkhatithum","sequence":"additional","affiliation":[{"name":"Division of Neurology Department of Pediatrics Faculty of Medicine Ramathibodi Hospital Mahidol University Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duangrurdee","family":"Wattanasirichaigoon","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics Faculty of Medicine Ramathibodi Hospital Mahidol University Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,2,17]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.12.008"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1206524"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004772"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1940"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22554"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.01.017"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMsr1406261"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.4.613"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101490"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38082","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38082","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T06:23:10Z","timestamp":1695536590000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38082"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,17]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.1002\/ajmg.a.38082"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38082","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,17]]}}}