Please use this identifier to cite or link to this item: https://observatorio.fm.usp.br/handle/OPI/29695
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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP-
dc.contributor.authorCARNEIRO, Thaise N. R.-
dc.contributor.authorKREPISCHI, Ana C. V.-
dc.contributor.authorCOSTA, Silvia S.-
dc.contributor.authorSILVA, Israel Tojal da-
dc.contributor.authorVIANNA-MORGANTE, Angela M.-
dc.contributor.authorVALIERIS, Renan-
dc.contributor.authorEZQUINA, Suzana A. M.-
dc.contributor.authorBERTOLA, Debora R.-
dc.contributor.authorOTTO, Paulo A.-
dc.contributor.authorROSENBERG, Carla-
dc.date.accessioned2018-11-21T17:09:39Z-
dc.date.available2018-11-21T17:09:39Z-
dc.date.issued2018-
dc.identifier.citationAPPLICATION OF CLINICAL GENETICS, v.11, p.93-98, 2018-
dc.identifier.issn1178-704X-
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/29695-
dc.description.abstractIntroduction: Exome sequencing is recognized as a powerful tool for identifying the genetic cause of intellectual disability (ID). It is uncertain, however, whether only the exome of the proband should be sequenced or if the sequencing of parental genomes is also required, and the resulting increase in diagnostic yield justifies the increase in costs. Patients and methods: We sequenced the exomes of eight individuals with sporadic syndromic ID and their parents. Results and discussion: Likely pathogenic variants were detected in eight candidate genes, namely homozygous or compound heterozygous variants in three autosomal genes (ADAMTSL2, NALCN, VPS13B), one in an X-linked gene (MID1), and de novo heterozygous variants in four autosomal genes (RYR2, GABBR2, CDK13, DDX3X). Two patients harbored rare variants in two or more candidate genes, while in three other patients no candidate was identified. In five probands (62%), the detected variants explained their clinical findings. The causative recessive variants would have led to diagnosis even without parental exome sequencing, but for the heterozygous dominant ones, the exome trio-based approach was fundamental in the identification of the de novo likely pathogenic variants.-
dc.description.sponsorshipBrazilian National Council for Scientific and Technological Development [CNPq-306879/2014-0]-
dc.description.sponsorshipSao Paulo Research Foundation [FAPESP-2012/50981-5, 2013/08028-1]-
dc.language.isoeng-
dc.publisherDOVE MEDICAL PRESS LTD-
dc.relation.ispartofApplication of Clinical Genetics-
dc.rightsopenAccess-
dc.subjectexome-
dc.subjectintellectual disability-
dc.subjectnext-generation sequencing-
dc.subject.otherde-novo mutations-
dc.subject.othermental-retardation-
dc.subject.otherepileptic encephalopathies-
dc.subject.otherdisorders-
dc.subject.othervariants-
dc.subject.otherreveals-
dc.titleUtility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases-
dc.typearticle-
dc.rights.holderCopyright DOVE MEDICAL PRESS LTD-
dc.identifier.doi10.2147/TACG.S165799-
dc.identifier.pmid30174453
dc.subject.wosGenetics & Heredity-
dc.type.categoryoriginal article-
dc.type.versionpublishedVersion-
hcfmusp.author.externalCARNEIRO, Thaise N. R.:Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, Brazil-
hcfmusp.author.externalKREPISCHI, Ana C. V.:Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, Brazil-
hcfmusp.author.externalCOSTA, Silvia S.:Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, Brazil-
hcfmusp.author.externalSILVA, Israel Tojal da:AC Camargo Canc Ctr, Int Res Ctr, Lab Computat Biol & Bioinformat, Sao Paulo, Brazil-
hcfmusp.author.externalVIANNA-MORGANTE, Angela M.:Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, Brazil-
hcfmusp.author.externalVALIERIS, Renan:AC Camargo Canc Ctr, Int Res Ctr, Lab Computat Biol & Bioinformat, Sao Paulo, Brazil-
hcfmusp.author.externalEZQUINA, Suzana A. M.:Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, Brazil-
hcfmusp.author.externalOTTO, Paulo A.:Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, Brazil-
hcfmusp.author.externalROSENBERG, Carla:Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, Brazil-
hcfmusp.description.beginpage93-
hcfmusp.description.endpage98-
hcfmusp.description.volume11-
hcfmusp.origemWOS-
hcfmusp.origem.idWOS:000443236400001-
hcfmusp.origem.id2-s2.0-85058045607
hcfmusp.publisher.cityALBANY-
hcfmusp.publisher.countryNEW ZEALAND-
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dc.description.indexPubMed-
hcfmusp.citation.scopus16-
hcfmusp.scopus.lastupdate2022-06-16-
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LIM/36 - Laboratório de Pediatria Clínica


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