{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,11]],"date-time":"2026-01-11T12:21:22Z","timestamp":1768134082737,"version":"3.49.0"},"reference-count":14,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2021]]},"abstract":"Many neurodevelopmental disorders are caused by the presence of CNVs. Chromosome microarray technology is widely used to accurately detect CNVs. We report the case of a male, aged 3 years, presenting with delayed psychomotor development, generalized hypotonia, encephalopathy, delayed myelination in the central nervous system, and poor motor coordination. The array CGH revealed an interstitial deletion of chromosome 19q13.2 with a size of 88.8 kb involving 3 OMIM genes: <i>RABAC1<\/i>, <i>ARHGEF1<\/i>, and <i>ATP1A3<\/i>. Heterozygous mutations in the <i>ATP1A3<\/i> gene are associated with delayed psychomotor development, alternating hemiplegia of childhood type 2 (AHC2), dystonia type 12, and cerebellarataxia-areflexia\u2013pes cavus-optic atrophy-sensorineural hearing loss syndrome, also called CAPOS syndrome. The phenotypic expression of partial <i>ATP1A3<\/i> deletion is, however, poorly described in the literature. The deletion was confirmed by MLPA, and we identified a hitherto undescribed novel deletion of exons 3b\u201321 of the <i>ATP1A3<\/i> gene. Our data suggest that the deletion of the <i>ATP1A3<\/i> gene is a causative factor of the AHC2 phenotype in the patient. <\/jats:p>","DOI":"10.1159\/000515043","type":"journal-article","created":{"date-parts":[[2021,6,10]],"date-time":"2021-06-10T21:01:46Z","timestamp":1623358906000},"page":"234-239","source":"Crossref","is-referenced-by-count":1,"title":["An 88.8-kb Novel Deletion of 19q13.2 Encompassing the <b><i>ATP1A3<\/i><\/b>Gene Detected by Array CGH in a Patient with Delayed Psychomotor Development, Generalized Hypotonia and Macrocephaly"],"prefix":"10.1159","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0032-0197","authenticated-orcid":false,"given":"Elena","family":"Garc\u00eda-Pay\u00e1","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Guti\u00e9rrez-Agull\u00f3","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco F.","family":"Garc\u00eda-Prieto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Franc\u00e9s Ferre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2021,6,10]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181b04acd"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2014.08.015"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/cne.22524"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012-0175"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-15"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13009"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.01.009"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/mrdd.10031"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M601780200"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000212"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25396"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318194ee8f"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1352\/0047-6765(2002)040%3c0457:CMAAOQ%3e2.0.CO;2"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/515043","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/515043","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:30:08Z","timestamp":1745425808000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000515043"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":14,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2021,7,16]]},"published-print":{"date-parts":[[2021,7,21]]}},"URL":"https:\/\/doi.org\/10.1159\/000515043","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021]]}}}