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Mutations in the<jats:italic>MNX1<\/jats:italic>gene are closely related to CS and occur in almost all familial cases and less than half of sporadic patients. We investigated the spectrum of<jats:italic>MNX1<\/jats:italic>pathogenic variants and associated clinical features in Chinese patients with CS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Seventeen index patients from 16 families were recruited from 2015 to 2018. All patients were diagnosed with CS and treated at the Capital Institute of Pediatrics Affiliated Children\u2019s Hospital. Genetic testing was applied to identify mutations in CS patients and their relatives by whole-exome sequencing and Sanger sequencing. Functional verification was performed for a recurrent noncanonical splice site variant in<jats:italic>MNX1<\/jats:italic>with a minigene splicing assay. In 17 CS patients, 14 were complete CS and 3 were mild CS. Nine variants in<jats:italic>MNX1<\/jats:italic>were identified in 11 patients, and these included two frameshift mutations (p.Leu223Leufs*61, p.X402Serfs*70), four nonsense mutations (p.Gly42X, p.Cys88X, p.Gln24X, p.Cys241X), one missense mutation (p.Trp288Leu), one splice region variant (c.691\u2009+\u20093G\u2009&gt;\u2009T) and one polyalanine polymorphism (p.Ala135insAlaAla). Seven of these nine variants have never been reported. Pathogenic<jats:italic>MNX1<\/jats:italic>mutations were found in 100% (4\/4) of familial and 46% (6\/13) of sporadic patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study expanded the mutation spectrum of<jats:italic>MNX1<\/jats:italic>and provided clinical and genetic analyses of seventeen CS patients from mainland China.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s13023-020-01442-4","type":"journal-article","created":{"date-parts":[[2020,6,22]],"date-time":"2020-06-22T11:03:02Z","timestamp":1592823782000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Novel MNX1 mutations and genotype\u2013phenotype analysis of patients with Currarino syndrome"],"prefix":"10.1186","volume":"15","author":[{"given":"Lu","family":"Han","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhen","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Song","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing","family":"Gao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuchun","family":"Yan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ran","family":"Tao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Long","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6023-2290","authenticated-orcid":false,"given":"Qian","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qi","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,6,22]]},"reference":[{"issue":"2","key":"1442_CR1","doi-asserted-by":"publisher","first-page":"395","DOI":"10.2214\/ajr.137.2.395","volume":"137","author":"G Currarino","year":"1981","unstructured":"Currarino G, Coln D, Votteler T. 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