Publication:
A new family with a novel OTUD6B mutation: practicing whole exome sequencing for antenatal diagnosis of Tetralogy of Fallot

dc.contributor.departmentKUTTAM (Koç University Research Center for Translational Medicine)
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorAltunoğlu, Umut
dc.contributor.kuauthorBörklü Yücel, Esra
dc.contributor.kuauthorEraslan, Serpil
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.schoolcollegeinstituteResearch Center
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T23:11:50Z
dc.date.issued2022
dc.description.abstractOTUD6B, which encodes a member of the ovarian tumor domain-containing deubiquitinating enzyme, has recently been associated with autosomal recessive intellectual disability syndrome with seizures and dysmorphic features. Here, we report one additional case with Tetralogy of Fallot (ToF), who has microcephaly and dysmorphic features along with renal parenchymal disease with simple cortical cysts. The family's first pregnancy was medically terminated due to antenatal diagnosis of ToF. A novel homozygous variant in OTUD6B (c.815T>G; p.[Ile272Arg]) was revealed by whole exome sequencing (WES) along with a previously reported heterozygous PKD1 variant, unraveling the blended phenotype observed in the proband. Our findings highlight the importance of WES for the prenatal diagnosis of ToF and expand the OTUD6B mutational spectrum.
dc.description.indexedbyWOS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.issue3
dc.description.openaccessYES
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuTÜBİTAK
dc.description.sponsorshipScientific and Technological Research Council of Turkey [112S398] This work was financially supported by the Scientific and Technological Research Council of Turkey through project 112S398 to H.K.
dc.description.volume13
dc.identifier.doi10.1159/000519557
dc.identifier.eissn1661-8777
dc.identifier.issn1661-8769
dc.identifier.scopus2-s2.0-85124087864
dc.identifier.urihttps://doi.org/10.1159/000519557
dc.identifier.urihttps://hdl.handle.net/20.500.14288/9711
dc.identifier.wos748010300001
dc.keywordsIddfsda
dc.keywordsOtud6b
dc.keywordsPkd1
dc.keywordsTetralogy of fallot
dc.keywordsWhole exom sequencing variants
dc.language.isoeng
dc.publisherKarger
dc.relation.ispartofMolecular Syndromology
dc.subjectGenetics
dc.subjectHeredity
dc.titleA new family with a novel OTUD6B mutation: practicing whole exome sequencing for antenatal diagnosis of Tetralogy of Fallot
dc.typeJournal Article
dspace.entity.typePublication
local.contributor.kuauthorBörklü Yücel, Esra
local.contributor.kuauthorAltunoğlu, Umut
local.contributor.kuauthorEraslan, Serpil
local.contributor.kuauthorKayserili, Hülya
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit1Research Center
local.publication.orgunit2KUTTAM (Koç University Research Center for Translational Medicine)
local.publication.orgunit2School of Medicine
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relation.isOrgUnitOfPublication.latestForDiscovery91bbe15d-017f-446b-b102-ce755523d939
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