{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T04:35:14Z","timestamp":1785818114879,"version":"3.56.0"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,2,8]],"date-time":"2021-02-08T00:00:00Z","timestamp":1612742400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Smith\u2010Kingsmore syndrome (SKS) is a rare autosomal dominant disorder caused by heterozygous germline activating pathogenic variants in mammalian target of rapamycin (\n                    <jats:italic>MTOR<\/jats:italic>\n                    ) on chromosome 1p36. A few patients with disseminated mosaicism have been described so far and they seem to display a different phenotype when compared to germline cases. Here we report the sixth case with a disseminated mosaic\n                    <jats:italic>MTOR<\/jats:italic>\n                    pathogenic variant, a 7\u2010year\u2010old boy with hemimegalencephaly, epilepsy, developmental delay, hypomelanosis of Ito, and lateralized overgrowth. Genetic testing revealed a pathogenic variant (c.4448G\u2009&gt;\u2009A, p.Cys1483Tyr) in\n                    <jats:italic>MTOR<\/jats:italic>\n                    with a frequency of 32% in the DNA extracted from a skin sample, 3% in saliva and 0.46% in blood. The clinical features observed in our patient further corroborate the existence of differences in phenotypic presentation of germline and mosaic SKS cases. Moreover, lateralized overgrowth, a finding never described so far in SKS, further expands the phenotypic spectrum of SKS and allows the inclusion of\n                    <jats:italic>MTOR<\/jats:italic>\n                    pathogenic variants among the several causes of asymmetric body overgrowth.\n                  <\/jats:p>","DOI":"10.1111\/cge.13931","type":"journal-article","created":{"date-parts":[[2021,1,28]],"date-time":"2021-01-28T14:35:24Z","timestamp":1611844524000},"page":"719-723","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["A new case of\n                    <scp>Smith\u2010Kingsmore<\/scp>\n                    syndrome with somatic\n                    <scp>MTOR<\/scp>\n                    pathogenic variant expands the phenotypic spectrum to lateralized overgrowth"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5690-6504","authenticated-orcid":false,"given":"Diana","family":"Carli","sequence":"first","affiliation":[{"name":"Pediatric Clinical Genetics Unit, Department of Public Health and Pediatric Sciences University of Torino and Regina Margherita Children's Hospital, Citt\u00e0 della Salute e della Scienza  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3793-5788","authenticated-orcid":false,"given":"Giovanni Battista","family":"Ferrero","sequence":"additional","affiliation":[{"name":"Department of Clinical and Biological Sciences University of Torino  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Fusillo","sequence":"additional","affiliation":[{"name":"Pediatric Clinical Genetics Unit, Department of Public Health and Pediatric Sciences University of Torino and Regina Margherita Children's Hospital, Citt\u00e0 della Salute e della Scienza  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Coppo","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology Regina Margherita Children's Hospital, Citt\u00e0 della Salute e della Scienza di Torino  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"La Selva","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology Regina Margherita Children's Hospital, Citt\u00e0 della Salute e della Scienza di Torino  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Zinali","sequence":"additional","affiliation":[{"name":"Pediatric Clinical Genetics Unit, Department of Public Health and Pediatric Sciences University of Torino and Regina Margherita Children's Hospital, Citt\u00e0 della Salute e della Scienza  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8927-8900","authenticated-orcid":false,"given":"Simona","family":"Cardaropoli","sequence":"additional","affiliation":[{"name":"Pediatric Clinical Genetics Unit, Department of Public Health and Pediatric Sciences University of Torino and Regina Margherita Children's Hospital, Citt\u00e0 della Salute e della Scienza  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlotta","family":"Ranieri","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Human Oncology (DIMO), Medical Genetics University of Bari \u201cAldo Moro\u201d  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4253-4361","authenticated-orcid":false,"given":"Matteo","family":"Iacoviello","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Human Oncology (DIMO), Medical Genetics University of Bari \u201cAldo Moro\u201d  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8640-5532","authenticated-orcid":false,"given":"Nicoletta","family":"Resta","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Human Oncology (DIMO), Medical Genetics University of Bari \u201cAldo Moro\u201d  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2795-6013","authenticated-orcid":false,"given":"Alessandro","family":"Mussa","sequence":"additional","affiliation":[{"name":"Pediatric Clinical Genetics Unit, Department of Public Health and Pediatric Sciences University of Torino and Regina Margherita Children's Hospital, Citt\u00e0 della Salute e della Scienza  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,2,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13135"},{"key":"e_1_2_6_3_1","first-page":"63","article-title":"Exome sequencing reveals de novo germline mutation of the mammalian target of rapamycin (MTOR) in a patient with megalencephaly and intractable seizures","volume":"2013","author":"Smith L","year":"2013","journal-title":"J Genomes 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