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Sequencing of <jats:italic><jats:styled-content style=\"fixed-case\">TSC1<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">TSC2<\/jats:styled-content><\/jats:italic> genes was performed in 117 children with <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content> and their parents. Association of <jats:italic><jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content><\/jats:italic> gene mutations with clinical manifestations was investigated. All gene mutations were heterozygous including in 16 patients (13.7%) with mutations in <jats:italic><jats:styled-content style=\"fixed-case\">TSC1<\/jats:styled-content><\/jats:italic> gene and 101 patients (86.3%) with mutations in <jats:italic><jats:styled-content style=\"fixed-case\">TSC2<\/jats:styled-content><\/jats:italic> gene. Among the 16 patients with <jats:italic><jats:styled-content style=\"fixed-case\">TSC1<\/jats:styled-content><\/jats:italic> gene mutations, 15 different types of mutations were found, which included 5 novel mutations; all patients had skin manifestations and epilepsy. Among the 101 patients with <jats:italic><jats:styled-content style=\"fixed-case\">TSC2<\/jats:styled-content><\/jats:italic> mutations, 85 different types of mutations were found, which included 25 novel mutations; 97 patients (96.0%) had skin manifestations; 97 (96.0%) had epilepsy; 74 (73.3%) had intellectual disability and 25 patients (24.8%) were autistic. The clinical phenotype of the 14 children with familial <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content> was more severe than that of their parents.<\/jats:p>","DOI":"10.1111\/cge.12920","type":"journal-article","created":{"date-parts":[[2016,11,8]],"date-time":"2016-11-08T14:57:50Z","timestamp":1478617070000},"page":"764-768","source":"Crossref","is-referenced-by-count":30,"title":["Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex"],"prefix":"10.1111","volume":"91","author":[{"given":"G.","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Pediatrics Chinese PLA General Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.N.","family":"Shi","sequence":"additional","affiliation":[{"name":"Bethune Medical Academy  Shijiazhuang 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