{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T10:15:02Z","timestamp":1771668902564,"version":"3.50.1"},"reference-count":32,"publisher":"BMJ","issue":"11","funder":[{"DOI":"10.13039\/501100017638","name":"Ministry of Health of the Russian Federation","doi-asserted-by":"publisher","award":["State Assignment # 122030300377-6"],"award-info":[{"award-number":["State Assignment # 122030300377-6"]}],"id":[{"id":"10.13039\/501100017638","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2023,7,20]]},"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>We describe the clinical and genetic characteristics of fetuses and infants diagnosed with tuberous sclerosis complex (TSC) in our centre, prenatally or neonatally, for a better understanding of the benefits of early screening.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>In this retrospective study, we analysed the data on one fetus and nine infants with a definitive TSC diagnosis by genetic criteria (five patients carrying <jats:italic>TSC1<\/jats:italic> variants and 5 patients carrying <jats:italic>TSC2<\/jats:italic> variants). We explored the differences between phenotypes of patients carrying <jats:italic>TSC1<\/jats:italic> and <jats:italic>TSC2<\/jats:italic> pathogenic variants.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The most common initial presenting features of TSC were cardiac rhabdomyomas (CRs) that were observed in nine out of ten patients. The most common postnatal features, besides CR, were presented with subependymal nodules\u2014in five patients, and hypomelanotic macules\u2014in four patients. In total, 10 variants causing TSC were detected in this study, including 5 novel variants. We demonstrated that patients with <jats:italic>TSC2<\/jats:italic> variants had earlier onset and more severe clinical manifestations compared with patients carrying <jats:italic>TSC1<\/jats:italic> variants.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Early diagnosis of TSC improves genetic counselling and perinatal management.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jcp-2023-208935","type":"journal-article","created":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T13:21:05Z","timestamp":1691068865000},"page":"756-760","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series"],"prefix":"10.1136","volume":"77","author":[{"given":"Anna S","family":"Bolshakova","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dmitry N","family":"Maslennikov","sequence":"additional","affiliation":[{"name":"Laboratory of Genomic Data Analysis, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jekaterina","family":"Shubina","sequence":"additional","affiliation":[{"name":"Laboratory of Genomic Data Analysis, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian 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E","family":"Atapina","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics Methods, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Igor O","family":"Sadelov","sequence":"additional","affiliation":[{"name":"Laboratory of Genomic Data Analysis, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadezhda V","family":"Zaretskaya","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian 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