{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T21:57:36Z","timestamp":1791496656030,"version":"4.3.4"},"reference-count":15,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,5,8]],"date-time":"2020-05-08T00:00:00Z","timestamp":1588896000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"University of Texas Tuberous Sclerosis Complex Center Endowment Fund","award":["0007183"],"award-info":[{"award-number":["0007183"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Tuberous sclerosis complex (TSC) is an autosomal dominant genetic condition that involves abnormalities of the skin, hamartomas in the heart, brain, and kidneys, seizures, as well as TSC\u2010associated neuropsychiatric disorders (TAND). About 90%\u201395% of individuals with TSC will have an identifiable pathogenic variant in either <jats:italic>TSC1<\/jats:italic> or <jats:italic>TSC2<\/jats:italic>. We present here two family members with clinical diagnoses of TSC that were later determined to be due to two different genetic etiologies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A 2\u2010year\u2010old Caucasian female (Patient 1) was born to non\u2010consanguineous healthy parents and was determined to have a clinical diagnosis of TSC at 2\u00a0months old. Her paternal great\u2010uncle (Patient 2) was also known to have a clinical diagnosis of TSC. Sequencing and deletion\/duplication analysis for <jats:italic>TSC1<\/jats:italic> and <jats:italic>TSC2<\/jats:italic> were performed on both individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Mutation analysis revealed that both Patient 1 and Patient 2 had identifiable pathogenic variants in <jats:italic>TSC2<\/jats:italic>. Patient 1 had c.4800_4801delTG (p.Cys1600Trpfs*2), while Patient 2 had c.4470_4471delinsTT (p.Glu1490_Lys1491delinsAsp*).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>To our knowledge, our clinical report is of significance as it is the third kindred to be identified with affected members with two distinct genetic etiologies for TSC. Our case report highlights the importance of incorporating genetic testing into the clinical evaluation for individuals with features suggestive of TSC.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1296","type":"journal-article","created":{"date-parts":[[2020,5,8]],"date-time":"2020-05-08T08:07:32Z","timestamp":1588925252000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0842-357X","authenticated-orcid":false,"given":"Kate","family":"Mowrey","sequence":"first","affiliation":[{"name":"Department of Pediatrics Division of Medical Genetics McGovern Medical School University of Texas Health Science Center at Houston Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary Kay","family":"Koenig","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Child and Adolescent Neurology McGovern Medical School University of Texas Health Science Center at Houston Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6731-3245","authenticated-orcid":false,"given":"Charles A.","family":"Szabo","sequence":"additional","affiliation":[{"name":"Department of Neurology and South Texas Comprehensive Epilepsy Center University of Texas Health Science Center at San Antonio  TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5682-4701","authenticated-orcid":false,"given":"Joshua","family":"Samuels","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Nephrology and Hypertension McGovern Medical School University of Texas Health Science Center at Houston Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shannon","family":"Mulligan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Gynecology and Reproductive Sciences Division of Genetic Counseling McGovern Medical School University of Texas Health Science Center at Houston Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah A.","family":"Pearson","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences McGovern Medical School at University of Texas Health Science Center at Houston Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hope","family":"Northrup","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Medical Genetics McGovern Medical School University of Texas Health Science Center at Houston Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,5,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738040190091101"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31803068c7"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C300226200"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90618-Z"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/stke.2122003re15"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.28"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2003.11.007"},{"key":"e_1_2_7_9_1","volume-title":"Tuberous sclerosis complex","author":"Northrup H.","year":"2018"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2013.08.001"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02247-9"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201402"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005637"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5327.805"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.6.1053"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.6.417"}],"container-title":["Molecular Genetics &amp; 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