{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T09:59:41Z","timestamp":1785578381478,"version":"3.56.0"},"reference-count":11,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T00:00:00Z","timestamp":1782259200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Key Project of Basic Research of Yunnan Provincial Department of Science and Technology","award":["202401AS070008"],"award-info":[{"award-number":["202401AS070008"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81960294"],"award-info":[{"award-number":["81960294"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Yunnan Provincial Health and Health Commission Medical High-end Talent Training Program","award":["L-2024021"],"award-info":[{"award-number":["L-2024021"]}]},{"name":"Yunnan Provincial Department of Science and Technology Youth Academic and Technical Leader Reserve Talent Project","award":["202105AC160012"],"award-info":[{"award-number":["202105AC160012"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2026,7,1]]},"abstract":"<jats:p>Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome is a rare autosomal recessive disorder characterized by immunodeficiency, centromeric instability, and facial dysmorphism. We report four Chinese pediatric patients with ICF syndrome diagnosed between 2018 and 2021. All patients presented with recurrent infections due to hypogammaglobulinemia. Whole-exome sequencing identified four novel mutations: CDCA7 c.695delC (p. Val233Ter), HELLS c.560T&gt;G (p.L187W), ZBTB24 compound heterozygous (c.1228_1229delinsC and c.649_652del), and ZBTB24 homozygous (c.1208A&gt;G, p.H403R). To our knowledge, this is the first report of CDCA7 p. Val233Ter and HELLS p.L187W mutations globally. These findings expand the mutational spectrum of ICF syndrome.<\/jats:p>","DOI":"10.1177\/19450265261464229","type":"journal-article","created":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T13:00:36Z","timestamp":1782306036000},"page":"183-189","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["ICF Syndrome in Chinese Children: Four Case Reports with Novel Mutations"],"prefix":"10.1177","volume":"30","author":[{"given":"Yan","family":"Lei","sequence":"first","affiliation":[{"name":"Children's Hospital Affiliated to Kunming Medical University (Kunming Children's Hospital), Kunming, Yunnan, China."},{"name":"Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanchun","family":"Wang","sequence":"additional","affiliation":[{"name":"Children's Hospital Affiliated to Kunming Medical University (Kunming Children's Hospital), Kunming, Yunnan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoning","family":"Liu","sequence":"additional","affiliation":[{"name":"Children's Hospital Affiliated to Kunming Medical University (Kunming Children's Hospital), Kunming, Yunnan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-7487-5640","authenticated-orcid":false,"given":"Li","family":"Li","sequence":"additional","affiliation":[{"name":"Children's Hospital Affiliated to Kunming Medical University (Kunming Children's Hospital), Kunming, Yunnan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,6,24]]},"reference":[{"issue":"1","key":"e_1_3_3_2_1","first-page":"55","article-title":"Clinical and genetic manifestations of immunodeficiency, centromeric instability, and facial anomalies syndrome: A case report and literature review","volume":"57","author":"Hu SC","year":"2019","unstructured":"Hu SC, , Wang YB, , Sun Q, et al. Clinical and genetic manifestations of immunodeficiency, centromeric instability, and facial anomalies syndrome: A case report and literature review. Chin J Pediatr 2019;57(1):55\u201359.","journal-title":"Chin J Pediatr"},{"key":"e_1_3_3_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1717509115"},{"issue":"8","key":"e_1_3_3_4_1","first-page":"621","article-title":"Analysis of clinical phenotype and molecular genetics of a rare case of ICF syndrome","volume":"37","author":"Lu YG","year":"2019","unstructured":"Lu YG, , Yao RE, , Li N, et al. Analysis of clinical phenotype and molecular genetics of a rare case of ICF syndrome. J Clin Pediatr 2019;37(8):621\u2013624.","journal-title":"J Clin Pediatr"},{"key":"e_1_3_3_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btac188"},{"key":"e_1_3_3_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.56"},{"key":"e_1_3_3_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkz557"},{"key":"e_1_3_3_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms8870"},{"key":"e_1_3_3_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddac291"},{"key":"e_1_3_3_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.40"},{"key":"e_1_3_3_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/46052"},{"issue":"2","key":"e_1_3_3_12_1","first-page":"115","article-title":"Clinical features and gene analysis of three cases of immunodeficiency-centromeric instability-facial anomalies syndrome","volume":"36","author":"Yang M","year":"2021","unstructured":"Yang M, , Sun BJ, , Wang WJ, et al. Clinical features and gene analysis of three cases of immunodeficiency-centromeric instability-facial anomalies syndrome. 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