{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:59:27Z","timestamp":1791208767748,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T00:00:00Z","timestamp":1791158400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T00:00:00Z","timestamp":1791158400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp;amp; Cancer"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Inherited platelet disorders (IPDs) are a heterogeneous group of diseases characterized by thrombocytopenia and\/or platelet functional abnormalities. This study aimed to identify novel candidate genes associated with hereditary thrombocytopenia using whole\u2010exome sequencing (WES).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>WES was performed in 40 patients with suspected IPDs. Functional characterization included segregation analysis, platelet\u2010based immunoblotting, and in silico structural modeling.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Rare variants in known IPD\u2010associated genes were identified in 32 patients (80%). Reanalysis of unresolved cases identified a novel homozygous\n                      <jats:italic>ITGA10<\/jats:italic>\n                      (NM_003637.5) variant (c.2248C&gt;T; p.Leu750Phe) in a 5\u2010year\u2010old female with severe thrombocytopenia.\n                      <jats:italic>ITGA10<\/jats:italic>\n                      encodes the \u03b110 subunit of the \u03b110\u03b21 integrin complex and is located within the recurrent 1q21.1 microdeletion region associated with thrombocytopenia\u2010absent radius syndrome. Immunoblotting studies demonstrated mildly reduced ITGA10 expression, an additional \u223c80\u00a0kDa ITGA10\u2010related band, markedly reduced ITGB1 expression, and absence of \u03b2\u2010actin expression in platelet lysates despite wild\u2010type\n                      <jats:italic>ACTB<\/jats:italic>\n                      and\n                      <jats:italic>ITGB1<\/jats:italic>\n                      genotypes. In silico structural analysis predicted reduced protein stability and impaired conformational flexibility associated with the p.Leu750Phe substitution.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>These findings support ITGA10 as a novel candidate gene for inherited thrombocytopenia and suggest that disruption of the ITGA10\u2013ITGB1 integrin complex may contribute to abnormal platelet homeostasis and cytoskeletal organization. Further functional studies and additional patients will be important to clarify the biological mechanisms and establish the role of ITGA10 in inherited thrombocytopenia.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/1545-5017.70733","type":"journal-article","created":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:11:53Z","timestamp":1791205913000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Biallelic ITGA10 Variant as a Candidate for Inherited Thrombocytopenia: Insights From a Whole\u2010Exome Sequencing Cohort"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2272-3456","authenticated-orcid":false,"given":"Durdugul Ayyildiz","family":"Emecen","sequence":"first","affiliation":[{"name":"Department of Pediatrics Ege University Faculty of Medicine  Izmir 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Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0657-2408","authenticated-orcid":false,"given":"Esra","family":"Isik","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enise Avci","family":"Durmusalioglu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1637-4678","authenticated-orcid":false,"given":"Deniz Y\u0131lmaz","family":"Karapinar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahdi","family":"Shekari","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4970-4837","authenticated-orcid":false,"given":"Goklem","family":"Uner","sequence":"additional","affiliation":[{"name":"Department of Bioengineering, Faculty of Engineering Izmir Institute of Technology  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiraje","family":"Celkan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology Istinye University Faculty of Medicine  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4792-269X","authenticated-orcid":false,"given":"Melike Sezgin","family":"Evim","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology Uluda\u011f University Faculty of Medicine  Bursa Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeynep Y\u0131ld\u0131z","family":"Y\u0131ld\u0131rmak","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology Health Sciences University Sisli Hamidiye Etfal Training and Research Hospital  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3037-2353","authenticated-orcid":false,"given":"Veysiye H\u00fclya","family":"\u00dczel","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology Dicle University Faculty of Medicine  Diyarbak\u0131r Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6908-8309","authenticated-orcid":false,"given":"Ye\u015fim","family":"Oymak","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology Dr. Behcet Uz Training and Research Hospital  Izmir 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