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It is, however, not known whether isolated non-syndromic CA and GA themselves might result from <jats:italic>SPINT2<\/jats:italic> mutations.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We performed a prospective cohort study to investigate 19 CA and\/or GA patients without diarrhea (\u201cnon-sCSD\u201d) for potential sCSD characteristic clinical features and <jats:italic>SPINT2<\/jats:italic> mutations.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>We found a heterozygous <jats:italic>SPINT2<\/jats:italic> splice mutation (c.593-1G&gt;A), previously demonstrated in sCSD in homozygous form, in only 1 of the 19 patients of the \u201cnon-sCSD\u201d cohort. This patient presented with isolated anal atresia and borderline low laboratory parameters of sodium balance. In the remaining 18 non-sCSD CA\/GA patients investigated, <jats:italic>SPINT2<\/jats:italic> sequence analysis and clinical markers of sodium homeostasis were normal. None of the 188 healthy controls tested in a regional Tyrolean population harbored the c.593-1G&gt;A mutation, which is also not listed in the ExAc and gnomAD databases.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>The finding of only one heterozygous <jats:italic>SPINT2<\/jats:italic> mutation in 19 patients with isolated CA\/GA was not statistically significant. Therefore, <jats:italic>SPINT2<\/jats:italic> mutations are an unlikely cause of non-sCSD atresia.<\/jats:p>\n                <jats:p><jats:italic>Trial registration<\/jats:italic> ISRCTN73824458. Retrospectively registered 28 September 2014<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s40001-018-0312-2","type":"journal-article","created":{"date-parts":[[2018,3,2]],"date-time":"2018-03-02T11:54:01Z","timestamp":1519991641000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely"],"prefix":"10.1186","volume":"23","clinical-trial-number":[{"clinical-trial-number":"isrctn73824458","registry":"10.18810\/isrctn"}],"author":[{"given":"Christian","family":"Niederwanger","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Lechner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"K\u00f6nig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas R.","family":"Janecke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claus","family":"Pototschnig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatrice","family":"H\u00e4ussler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Scholl-B\u00fcrgi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0229-7501","authenticated-orcid":false,"given":"Peter","family":"Heinz-Erian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,3,2]]},"reference":[{"issue":"5","key":"312_CR1","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1016\/j.ejmg.2014.02.010","volume":"57","author":"V Kancherla","year":"2014","unstructured":"Kancherla V, Romitti PA, Sun L, et al. 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