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A Chinese pedigree with tuberous sclerosis complex was collected and the exomes of two affected individuals were sequenced using the whole exome sequencing technology. The resulting variants from whole exome sequencing were filtered by basic and advanced biological information analysis and the candidate mutation was verified as heterozygous by sanger sequencing. After basic and advanced biological information analysis, a total of 9 single nucleotide variants were identified, which were all follow the dominant inheritance pattern. Among which, the intron heterozygous mutation c.600-145\u2009C\u2009&gt;\u2009T transition in <jats:italic>TSC2<\/jats:italic> was identified and validated in the two affected individuals. <jats:italic>In silico<\/jats:italic> analysis with human splicing finder (HSF) predicted the effect of the c.600-145\u2009C\u2009&gt;\u2009T mutations on <jats:italic>TSC2<\/jats:italic> mRNA splicing, and detected the creation of a new exonic cryptic donor site, which would result in a frame-shift, and finally premature termination codon. Our results reported the novel intron heterozygous mutation c.600-145\u2009C\u2009&gt;\u2009T in <jats:italic>TSC2<\/jats:italic> may contribute to TSC, expanding our understanding of the causally relevant genes for this disorder.<\/jats:p>","DOI":"10.1038\/s41598-019-38898-9","type":"journal-article","created":{"date-parts":[[2019,3,14]],"date-time":"2019-03-14T12:06:06Z","timestamp":1552565166000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex"],"prefix":"10.1038","volume":"9","author":[{"given":"Yicong","family":"Ye","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,3,14]]},"reference":[{"key":"38898_CR1","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1136\/jmg.30.1.41","volume":"30","author":"H Northrup","year":"1993","unstructured":"Northrup, H., Wheless, J. 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