{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T02:15:27Z","timestamp":1788315327121,"version":"build-2803163510"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T00:00:00Z","timestamp":1783468800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T00:00:00Z","timestamp":1783468800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100007338","name":"All-India Institute of Medical Sciences","doi-asserted-by":"publisher","award":["A603"],"award-info":[{"award-number":["A603"]}],"id":[{"id":"10.13039\/501100007338","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Thrombocytopenia\u2010absent radius (TAR) syndrome is a rare genetic disorder characterized by the absence of radius in the forearms and a decrease in platelet count. The molecular basis of TAR syndrome is linked to a heterozygous minimal deletion within the 1q21.1 region spanning 200\u2009k bases (kb), resulting in a null allele and a nucleotide variation in\n                    <jats:italic>RBM8A<\/jats:italic>\n                    resulting in a hypomorphic allele. Previous studies have identified pathogenic variants in the coding regions of the\n                    <jats:italic>RBM8A<\/jats:italic>\n                    gene as the cause of TAR syndrome. However, the involvement of non\u2010coding variants in disease pathogenesis remains largely unexplored. We investigated the association of a non\u2010coding 3\u2032 UTR variant, c.*6C&gt;T, in\n                    <jats:italic>RBM8A<\/jats:italic>\n                    with TAR syndrome in three individuals from two unrelated families of Indian origin. Our study provides evidence that this variant is associated with decreased stability of the transcript and is a hypomorphic allele with disease\u2010causing impact when in trans with a null allele (1q21.1 deletion). The present work is the first application of an mRNA stability assay to directly detect RNA degradation in patients with non\u2010coding\n                    <jats:italic>RBM8A<\/jats:italic>\n                    variants causing TAR syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.70208","type":"journal-article","created":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T03:13:37Z","timestamp":1783566817000},"page":"490-495","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Non\u2010Coding c.*\n                    <scp>6C<\/scp>\n                    &gt;T Variant in\n                    <scp>\n                      <i>RBM8A<\/i>\n                    <\/scp>\n                    Associated With Thrombocytopenia\u2010Absent Radius (\n                    <scp>TAR<\/scp>\n                    ) Syndrome in Three Indian Patients"],"prefix":"10.1111","volume":"110","author":[{"given":"Nitika","family":"Langeh","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Genetics All India Institute of Medical Sciences (AIIMS)  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reddipalli","family":"Sharath","sequence":"additional","affiliation":[{"name":"Department of Biochemistry AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed Tahir","family":"Ansari","sequence":"additional","affiliation":[{"name":"Department of Orthopedics AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3903-7252","authenticated-orcid":false,"given":"Jayanth Kumar","family":"Palanichamy","sequence":"additional","affiliation":[{"name":"Department of Biochemistry AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neerja","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics All India Institute of Medical Sciences (AIIMS)  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,8]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792\u2010196948060\u201000001"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426\u2010198821000\u201000010"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24021"},{"key":"e_1_2_10_5_1","volume-title":"GeneReviews","author":"Petit F.","year":"2009"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.12.876"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/510919"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1055\/a\u20102088\u20101801"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100031\u20101291381"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1083"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0805384"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.00577"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23179621"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.14913"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24145"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2013.02.015"},{"key":"e_1_2_10_17_1","doi-asserted-by":"crossref","unstructured":"C.Avenda\u00f1oandJ. C.Men\u00e9ndez \u201cDNA Intercalators and Topoisomerase Inhibitors \u201d(2008) https:\/\/api.semanticscholar.org\/CorpusID:93739959.","DOI":"10.1016\/B978-0-444-52824-7.00007-X"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70208","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70208","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70208","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T01:53:44Z","timestamp":1788314024000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70208"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,8]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["10.1111\/cge.70208"],"URL":"https:\/\/doi.org\/10.1111\/cge.70208","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,8]]},"assertion":[{"value":"2025-10-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-19","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-08","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}