{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T01:59:12Z","timestamp":1791511152114,"version":"4.3.4"},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,5,22]],"date-time":"2017-05-22T00:00:00Z","timestamp":1495411200000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2017,5,22]],"date-time":"2017-05-22T00:00:00Z","timestamp":1495411200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003382","name":"Core Research for Evolutional Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003382","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002241","name":"Japan Science and Technology Agency","doi-asserted-by":"publisher","award":["26461538"],"award-info":[{"award-number":["26461538"]}],"id":[{"id":"10.13039\/501100002241","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Chromosome 2p15p16.1 deletion syndrome is a rare genetic disorder characterized by intellectual disability (<jats:styled-content style=\"fixed-case\">ID<\/jats:styled-content>), neurodevelopmental delay, language delay, growth retardation, microcephaly, structural brain abnormalities, and dysmorphic features. More than 30 patients with 2p15p16.1 microdeletion syndrome have been reported in the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Molecular analysis was performed using microarray\u2010based comparative genomic hybridization (array <jats:styled-content style=\"fixed-case\">CGH<\/jats:styled-content>). Clinical characteristics and brain magnetic resonance imaging features of these patients were also reviewed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified four patients with <jats:styled-content style=\"fixed-case\">ID<\/jats:styled-content>, neurodevelopmental delay, brain malformations, and dysmorphic features; two patients with 2p15p16.1 deletions (3.24\u00a0Mb, 5.04\u00a0Mb), one patient with 2p16.1 deletion (1.12\u00a0Mb), and one patient with 2p14p16.1 deletion (5.12\u00a0Mb). Three patients with 2p15p16.1 deletions or 2p16.1 deletions encompassing <jats:italic><jats:styled-content style=\"fixed-case\">BCL<\/jats:styled-content>11A<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">PAPOLG<\/jats:styled-content><\/jats:italic>, and <jats:italic><jats:styled-content style=\"fixed-case\">REL<\/jats:styled-content><\/jats:italic> showed hypoplasia of the pons and cerebellum. The patient with 2p14p16.1 deletion, which did not include three genes showed normal size and shape of the cerebellar hemispheres and pons.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The zinc finger transcription factor <jats:italic><jats:styled-content style=\"fixed-case\">BCL<\/jats:styled-content>11A<\/jats:italic> associated with the <jats:styled-content style=\"fixed-case\">BAF<\/jats:styled-content> chromatin remodeling complex has been identified to be critical for neural development and <jats:italic><jats:styled-content style=\"fixed-case\">BCL<\/jats:styled-content>11A<\/jats:italic> haploinsufficiency is closely related to cerebellar abnormalities.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.289","type":"journal-article","created":{"date-parts":[[2017,5,24]],"date-time":"2017-05-24T00:21:50Z","timestamp":1495585310000},"page":"429-437","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Haploinsufficiency of <i><scp>BCL<\/scp>11A<\/i> associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome"],"prefix":"10.1002","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1677-752X","authenticated-orcid":false,"given":"Hiroko","family":"Shimbo","sequence":"first","affiliation":[{"name":"Clinical Research Institute Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Yokoi","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center Yokohama 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