{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T07:20:32Z","timestamp":1767165632631,"version":"build-2238731810"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,2,12]],"date-time":"2021-02-12T00:00:00Z","timestamp":1613088000000},"content-version":"vor","delay-in-days":42,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Social Development Public Welfare Foundation of Ningbo","award":["2019C50070"],"award-info":[{"award-number":["2019C50070"]}]},{"name":"Social Development Public Welfare Foundation of Ningbo","award":["202002N3150"],"award-info":[{"award-number":["202002N3150"]}]},{"name":"Social Development Public Welfare Foundation of Ningbo","award":["2020KY890"],"award-info":[{"award-number":["2020KY890"]}]},{"name":"Social Development Public Welfare Foundation of Ningbo","award":["2005DKA32408"],"award-info":[{"award-number":["2005DKA32408"]}]},{"name":"Medical and Health Project of Zhejiang Province","award":["2019C50070"],"award-info":[{"award-number":["2019C50070"]}]},{"name":"Medical and Health Project of Zhejiang Province","award":["202002N3150"],"award-info":[{"award-number":["202002N3150"]}]},{"name":"Medical and Health Project of Zhejiang Province","award":["2020KY890"],"award-info":[{"award-number":["2020KY890"]}]},{"name":"Medical and Health Project of Zhejiang Province","award":["2005DKA32408"],"award-info":[{"award-number":["2005DKA32408"]}]},{"name":"National Population and Reproductive Health Science Data Center","award":["2019C50070"],"award-info":[{"award-number":["2019C50070"]}]},{"name":"National Population and Reproductive Health Science Data Center","award":["202002N3150"],"award-info":[{"award-number":["202002N3150"]}]},{"name":"National Population and Reproductive Health Science Data Center","award":["2020KY890"],"award-info":[{"award-number":["2020KY890"]}]},{"name":"National Population and Reproductive Health Science Data Center","award":["2005DKA32408"],"award-info":[{"award-number":["2005DKA32408"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>\n                    PPP2R5D\u2010related neurodevelopmental disorder, which is mainly caused by de novo missense variants in the\n                    <jats:italic>PPP2R5D<\/jats:italic>\n                    gene, is a rare autosomal dominant genetic disorder with about 100 patients and a total of thirteen pathogenic variants known to exist globally so far. Here, we present a 24\u2010month\u2010old Chinese boy with developmental delay and other common clinical characteristics of PPP2R5D\u2010related neurodevelopmental disorder including hypotonia, macrocephaly, intellectual disability, speech impairment, and behavioral abnormality. Trio\u2010whole exome sequencing (WES) and Sanger sequencing were performed to identify the causal gene variant. The pathogenicity of the variant was evaluated using bioinformatics tools. We identified a novel pathogenic variant in the\n                    <jats:italic>PPP2R5D<\/jats:italic>\n                    gene (c.620G&gt;T, p.Trp207Leu). The variant is located in the variant hotspot region of this gene and is predicted to cause PPP2R5D protein dysfunction due to an increase in local hydrophobicity and unstable three\u2010dimensional structure. We report a novel pathogenic variant of\n                    <jats:italic>PPP2R5D<\/jats:italic>\n                    associated with PPP2R5D\u2010related neurodevelopmental disorder from a Chinese family. Our findings expanded the phenotypic and mutational spectrum of PPP2R5D\u2010related neurodevelopmental disorder.\n                  <\/jats:p>","DOI":"10.1155\/2021\/6661860","type":"journal-article","created":{"date-parts":[[2021,2,13]],"date-time":"2021-02-13T23:33:40Z","timestamp":1613259220000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["[Retracted] A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype"],"prefix":"10.1155","volume":"2021","author":[{"given":"Lulu","family":"Yan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0562-7219","authenticated-orcid":false,"given":"Ru","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zongfu","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunxiao","family":"Han","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuxin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yingwen","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangchun","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Xie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9309-6632","authenticated-orcid":false,"given":"Haibo","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,2,12]]},"reference":[{"key":"e_1_2_9_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neubiorev.2014.02.015"},{"key":"e_1_2_9_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pnpbp.2017.09.014"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2017.11.006"},{"key":"e_1_2_9_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3999"},{"key":"e_1_2_9_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature15816"},{"key":"e_1_2_9_6_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21041286"},{"key":"e_1_2_9_7_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI79860"},{"key":"e_1_2_9_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv182"},{"key":"e_1_2_9_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-015-0466-9"},{"key":"e_1_2_9_10_2","unstructured":"Jordan\u2019s Guardian Angels https:\/\/jordansguardianangels.org\/the-history-of-jordans-syndrome\/. Accessed on 10 February 2020."},{"key":"e_1_2_9_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_12_2","unstructured":"MirzaaG. FossK. NattakomM. andChungW. K. PPP2R5D-related neurodevelopmental disorder GeneReviews\u00ae 2019 1993\u20132020."},{"key":"e_1_2_9_13_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-017-0182-4"},{"key":"e_1_2_9_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2004.12.004"},{"key":"e_1_2_9_15_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1260419"},{"key":"e_1_2_9_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature14135"}],"updated-by":[{"DOI":"10.1155\/2023\/9781948","type":"retraction","label":"Retraction","source":"retraction-watch","updated":{"date-parts":[[2023,11,29]],"date-time":"2023-11-29T00:00:00Z","timestamp":1701216000000},"record-id":"60322"},{"DOI":"10.1155\/2023\/9781948","type":"retraction","label":"Retraction","source":"publisher","updated":{"date-parts":[[2023,11,29]],"date-time":"2023-11-29T00:00:00Z","timestamp":1701216000000}}],"container-title":["BioMed Research International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2021\/6661860.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2021\/6661860.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/2021\/6661860","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,31]],"date-time":"2024-12-31T07:24:27Z","timestamp":1735629867000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/2021\/6661860"}},"subtitle":[],"editor":[{"given":"Min","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2021,1]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["10.1155\/2021\/6661860"],"URL":"https:\/\/doi.org\/10.1155\/2021\/6661860","archive":["Portico"],"relation":{},"ISSN":["2314-6133","2314-6141"],"issn-type":[{"value":"2314-6133","type":"print"},{"value":"2314-6141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1]]},"assertion":[{"value":"2020-12-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-01","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"6661860"}}