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A monogenic mutation is one of the disease etiologies and the use of next-generation sequencing (NGS) has made it possible to screen patients for their mutations.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Main body<\/jats:title>\n                <jats:p>We retrospectively reviewed the clinical data of four children from unrelated families, who presented with neonatal-onset, chronic, watery, non-bloody diarrhea. After genetic whole-exome sequencing, novel mutations were identified in the <jats:italic>EPCAM<\/jats:italic> gene of two children. Congenital chloride diarrhea was diagnosed in one case, which was associated with an <jats:italic>SLC<\/jats:italic><jats:italic>26A<\/jats:italic><jats:italic>3<\/jats:italic> mutation, in which the patient presented with watery diarrhea, malnutrition, and hypochloremic alkalosis. Patient 4 was diagnosed with microvillus inclusion disease and possessed novel compound heterozygous mutations in the <jats:italic>MYO5B<\/jats:italic> gene. A review of the genetic variants of <jats:italic>SLC<\/jats:italic><jats:italic>26A<\/jats:italic><jats:italic>3<\/jats:italic> reported in East Asia revealed that c.269_270 dupAA (p.G91Kfs*3) is the most frequent <jats:italic>SLC<\/jats:italic><jats:italic>26A<\/jats:italic><jats:italic>3<\/jats:italic> mutation in China, compared with c.2063-1 G\u2009&gt;\u2009T in Japan and Korea. <jats:italic>EPCAM<\/jats:italic> and <jats:italic>MYO5B<\/jats:italic> genetic variants were only sporadically reported in East Asia.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>This study expands our knowledge of the clinical manifestations and molecular genetics of neonatal-onset watery diarrhea. Early diagnosis could be achieved by genomic analysis in those infants whose histology features are not typical. The discovery of four novel mutations in the <jats:italic>EPCAM<\/jats:italic> gene and two novel mutations in the <jats:italic>MYO5B<\/jats:italic> gene provides further etiological evidence for the association of genetic mutations with neonatal-onset diarrhea. To date, c.269_270 dupAA is the most frequent <jats:italic>SLC<\/jats:italic><jats:italic>26A<\/jats:italic><jats:italic>3<\/jats:italic> mutation in China.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-021-01995-y","type":"journal-article","created":{"date-parts":[[2021,9,9]],"date-time":"2021-09-09T08:02:48Z","timestamp":1631174568000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia"],"prefix":"10.1186","volume":"16","author":[{"given":"Weihui","family":"Yan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongtao","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunyi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yijing","family":"Tao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunhui","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7937-9858","authenticated-orcid":false,"given":"Ying","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,9,9]]},"reference":[{"issue":"1","key":"1995_CR1","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/j.clp.2019.10.010","volume":"47","author":"AA Elkadri","year":"2020","unstructured":"Elkadri AA. 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