{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:46:38Z","timestamp":1777553198593,"version":"3.51.4"},"reference-count":36,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,10,28]],"date-time":"2021-10-28T00:00:00Z","timestamp":1635379200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","award":["1805008"],"award-info":[{"award-number":["1805008"]}],"id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["305806\/2019\u20100"],"award-info":[{"award-number":["305806\/2019\u20100"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2013\/08028\u20101"],"award-info":[{"award-number":["2013\/08028\u20101"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2012\/50981\u20105"],"award-info":[{"award-number":["2012\/50981\u20105"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2018\/08486\u20103"],"award-info":[{"award-number":["2018\/08486\u20103"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J intellect Disabil Res"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Genetic variants involving the <jats:italic>MED13L<\/jats:italic> gene can lead to an autosomal dominant syndrome characterised by intellectual disability\/developmental delay and facial dysmorphism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We investigated two cases (one familial and one isolated) of intellectual disability with speech delay and dysmorphic facial features by whole\u2010exome sequencing analyses. Further, we performed a literature review about clinical and molecular aspects of <jats:italic>MED13L<\/jats:italic> gene and syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two <jats:italic>MED13L<\/jats:italic> variants have been identified [<jats:italic>MED13L<\/jats:italic>(NM_015335.5):c.4417C&gt;T and <jats:italic>MED13L<\/jats:italic>(NM_015335.5):c.2318delC] and were classified as pathogenic according to the ACMG (American College of Medical Genetics and Genomics) guidelines. One of the variants was present in sibs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The two pathogenic variants identified have not been previously reported. Importantly, this is the first report of a familial case of <jats:italic>MED13L<\/jats:italic> nonsense mutation. Although the parents of the affected children were no longer available for analysis, their apparently normal phenotypes were surmised from familial verbal descriptions corresponding to normal mental behaviour and phenotype. In this situation, the familial component of mutation transmission might be caused by gonadal mosaicism of a <jats:italic>MED13L<\/jats:italic> mutation in a gonad from either the father or the mother. The case reports and the literature review presented in this manuscript can be useful for genetic counselling.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jir.12891","type":"journal-article","created":{"date-parts":[[2021,10,29]],"date-time":"2021-10-29T05:37:07Z","timestamp":1635485827000},"page":"1049-1057","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Two novel pathogenic variants in <i>MED13L<\/i>: one familial and one isolated case"],"prefix":"10.1111","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5599-2236","authenticated-orcid":false,"given":"L. M. L.","family":"Carvalho","sequence":"first","affiliation":[{"name":"Human Genome and Stem Cell Research Centre, Department of Genetics and Evolutionary Biology, Institute of Biosciences University of S\u00e3o Paulo (USP)  S\u00e3o Paulo SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. S.","family":"da Costa","sequence":"additional","affiliation":[{"name":"Human Genome and Stem Cell Research Centre, Department of Genetics and Evolutionary Biology, Institute of Biosciences University of S\u00e3o Paulo (USP)  S\u00e3o Paulo SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Campagnari","sequence":"additional","affiliation":[{"name":"STgenetics  Indaiatuba SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Kaufman","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Faculty of Medicine University of S\u00e3o Paulo (USP)  S\u00e3o Paulo SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4701-6777","authenticated-orcid":false,"given":"D. R.","family":"Bertola","sequence":"additional","affiliation":[{"name":"Human Genome and Stem Cell Research Centre, Department of Genetics and Evolutionary Biology, Institute of Biosciences University of S\u00e3o Paulo (USP)  S\u00e3o Paulo SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4687-1499","authenticated-orcid":false,"given":"I. T.","family":"da Silva","sequence":"additional","affiliation":[{"name":"International Centre for Research A. C. Camargo Cancer Centre  S\u00e3o Paulo SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2931-8605","authenticated-orcid":false,"given":"A. C. V.","family":"Krepischi","sequence":"additional","affiliation":[{"name":"Human Genome and Stem Cell Research Centre, Department of Genetics and Evolutionary Biology, Institute of Biosciences University of S\u00e3o Paulo (USP)  S\u00e3o Paulo SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2305-0986","authenticated-orcid":false,"given":"C. P.","family":"Koiffmann","sequence":"additional","affiliation":[{"name":"Human Genome and Stem Cell Research Centre, Department of Genetics and Evolutionary Biology, Institute of Biosciences University of S\u00e3o Paulo (USP)  S\u00e3o Paulo SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3253-4448","authenticated-orcid":false,"given":"C.","family":"Rosenberg","sequence":"additional","affiliation":[{"name":"Human Genome and Stem Cell Research Centre, Department of Genetics and Evolutionary Biology, Institute of Biosciences University of S\u00e3o Paulo (USP)  S\u00e3o Paulo SP 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