{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T21:29:28Z","timestamp":1776288568490,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,9,2]],"date-time":"2020-09-02T00:00:00Z","timestamp":1599004800000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    RBM10, is an RNA binding protein that is important for development by regulating the expression of multiple genes.\n                    <jats:italic>RBM10<\/jats:italic>\n                    is on the X chromosome, and nonsense and frameshift\n                    <jats:italic>RBM10<\/jats:italic>\n                    variants cause TARP syndrome in males. In a 4\u2010year\u2010old male, we identified a novel maternally inherited missense\n                    <jats:italic>RBM10<\/jats:italic>\n                    variant in the RRM2 RNA binding domain, c.965C&gt;T, p.Pro322Leu. His clinical features included intellectual disability, developmental delay, growth restriction, hypotonia, and craniofacial malformations. These features were much milder than those described in previously reported cases of TARP syndrome. By\n                    <jats:italic>in vitro<\/jats:italic>\n                    assays, we found that the mutant p.Pro322Leu RBM10 protein retained its specific RNA binding capacity, while gaining a low\u2010affinity nonspecific RNA binding. It was normally localized to the nucleus, but its expression level was significantly reduced with a significantly short half\u2010life. These results indicated that the p.Pro322Leu missense variant causes a developmental disorder in humans through a unique loss\u2010of\u2010function mechanism.\n                  <\/jats:p>","DOI":"10.1111\/cge.13835","type":"journal-article","created":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T01:14:21Z","timestamp":1598577261000},"page":"606-612","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["A novel missense variant in\n                    <scp>\n                      <i>RBM10<\/i>\n                    <\/scp>\n                    can cause a mild form of\n                    <scp>TARP<\/scp>\n                    syndrome with developmental delay and dysmorphic features"],"prefix":"10.1111","volume":"98","author":[{"given":"Eri","family":"Imagawa","sequence":"first","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsuyoshi","family":"Konuma","sequence":"additional","affiliation":[{"name":"Graduate School of Medical Life Science, Yokohama City University  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emalyn E.","family":"Cork","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George A.","family":"Diaz","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York NY USA"},{"name":"Department of Pediatrics Icahn School of Medicine at Mount Sinai  New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9446-8912","authenticated-orcid":false,"given":"Kimihiko","family":"Oishi","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York NY USA"},{"name":"Department of Pediatrics Icahn School of Medicine at Mount Sinai  New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,9,2]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/15476286.2016.1247148"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.007"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34190"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36212"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-017-0426-3"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40638"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40645"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.09.001"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1042\/BC20070142"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx225"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.26644"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00197809"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00404272"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx508"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13410"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13765"}],"container-title":["Clinical 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