{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,17]],"date-time":"2025-11-17T08:17:59Z","timestamp":1763367479458,"version":"3.37.3"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,7,12]],"date-time":"2021-07-12T00:00:00Z","timestamp":1626048000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,7,12]],"date-time":"2021-07-12T00:00:00Z","timestamp":1626048000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100005047","name":"Natural Science Foundation of Liaoning Province","doi-asserted-by":"publisher","award":["2019-ZD-0913"],"award-info":[{"award-number":["2019-ZD-0913"]}],"id":[{"id":"10.13039\/501100005047","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive condition, which is caused by biallelic mutations in mismatch repair genes: <jats:italic>MSH2<\/jats:italic>, <jats:italic>MLH1<\/jats:italic>, <jats:italic>MSH6<\/jats:italic>, and <jats:italic>PMS2<\/jats:italic>.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We reported a unique case of an 11-year-old Chinese girl with colorectal polyposis and caf\u00e9-au-lait macules who had no obvious family history of Lynch syndrome-associated tumors, followed by brain gliomas and colorectal carcinoma five years later. The diagnosis of CMMRD was based on gene sequencing analysis showing a homozygous deletion NM_00535.5:c.1577delA (p.Asp526fs) in exon 11 of the <jats:italic>PMS2<\/jats:italic> gene. Although the patient underwent surgery and radiation therapy, and close surveillances including radiological, endoscopic and hematological screening have been recommended, she died of the exacerbation of neurological symptoms at the age of 18.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>We identified a novel homozygous deletion in the <jats:italic>PMS2<\/jats:italic> gene in a CMMRD patient with complex clinical features.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-021-01031-9","type":"journal-article","created":{"date-parts":[[2021,7,12]],"date-time":"2021-07-12T03:10:35Z","timestamp":1626059435000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report"],"prefix":"10.1186","volume":"14","author":[{"given":"Shiqing","family":"Tan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoting","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aoxue","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5909-7674","authenticated-orcid":false,"given":"Li","family":"Ying","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,7,12]]},"reference":[{"issue":"5","key":"1031_CR1","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1136\/jmedgenet-2013-102238","volume":"51","author":"HFA Vasen","year":"2014","unstructured":"Vasen HFA, Ghorbanoghli Z, Bourdeaut F, et al. Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium \u201cCare for CMMR-D\u201d (C4CMMR-D). J Med Genet. 2014;51(5):283\u201393.","journal-title":"J Med Genet"},{"issue":"3","key":"1031_CR2","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1093\/neuonc\/noq191","volume":"13","author":"KJ Cohen","year":"2011","unstructured":"Cohen KJ, Pollack IF, Zhou T, et al. Temozolomide in the treatment of high-grade gliomas in children: a report from the Children\u2019s Oncology Group. Neuro Oncol. 2011;13(3):317\u201323.","journal-title":"Neuro Oncol"},{"issue":"10","key":"1031_CR3","doi-asserted-by":"publisher","first-page":"1853","DOI":"10.1016\/j.jpedsurg.2012.05.024","volume":"47","author":"C Wei","year":"2012","unstructured":"Wei C, Dayong W, Liqun J, Xiaoman W, Yu W, Xiaohong Q. Colorectal polyps in children: a retrospective study of clinical features and the value of ultrasonography in their diagnosis. 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