Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy

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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.authorHARRIS, Sarah C.
dc.contributor.authorCHONG, Karen
dc.contributor.authorCHITAYAT, David
dc.contributor.authorGILMORE, Kelly L.
dc.contributor.authorJORGE, Alexander A. L.
dc.contributor.authorFREIRE, Bruna L.
dc.contributor.authorLERARIO, Antonio
dc.contributor.authorSHANNON, Patrick
dc.contributor.authorCOPE, Heidi
dc.contributor.authorGALLENTINE, William B.
dc.contributor.authorGUYADER, Gwenal Le
dc.contributor.authorBILAN, Frederic
dc.contributor.authorLETARD, Pascaline
dc.contributor.authorDAVIS, Erica E.
dc.contributor.authorVORA, Neeta L.
dc.date.accessioned2023-06-21T14:06:16Z
dc.date.available2023-06-21T14:06:16Z
dc.date.issued2023
dc.description.abstractExome sequencing is a powerful tool in prenatal and postnatal genetics and can help identify novel candidate genes critical to human development. We describe seven unpublished probands with rare likely pathogenic variants or variants of uncertain significance that segregate with recessive disease in TBC1D32, including four fetal probands in three unrelated pedigrees and three pediatric probands in unrelated pedigrees. We also report clinical comparisons with seven previously published patients. Index probands were identified through an ongoing prenatal exome sequencing study and through an online data sharing platform (Gene Matcher (TM)). A literature review was also completed. TBC1D32 is involved in the development and function of cilia and is expressed in the developing hypothalamus and pituitary gland. We provide additional data to expand the phenotype correlated with TBC1D32 variants, including a severe prenatal phenotype associated with life-limiting congenital anomalies.eng
dc.description.indexMEDLINE
dc.description.indexPubMed
dc.description.indexWoS
dc.description.indexScopus
dc.description.sponsorshipUS National Institutes of Health [R21TR002770, R01HD105868, R01DK072301, R01HD042601]
dc.description.sponsorshipSao Paulo Research Foundation-FAPESP [2013/03236-5, 2018/10893-6]
dc.description.sponsorshipNational Council for Scientific and Technological Development-CNPq [303294/2020-5]
dc.identifier.citationAMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.191, n.5, p.1282-1292, 2023
dc.identifier.doi10.1002/ajmg.a.63150
dc.identifier.eissn1552-4833
dc.identifier.issn1552-4825
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/53796
dc.language.isoeng
dc.publisherWILEYeng
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.rightsrestrictedAccesseng
dc.rights.holderCopyright WILEYeng
dc.subjectciliopathyeng
dc.subjectexome sequencingeng
dc.subjectprenatal phenotypeeng
dc.subject.otherfacial-digital syndromeseng
dc.subject.wosGenetics & Heredityeng
dc.titleDiagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathyeng
dc.typearticleeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.affiliation.countryEstados Unidos
hcfmusp.affiliation.countryFrança
hcfmusp.affiliation.countryCanadá
hcfmusp.affiliation.countryisous
hcfmusp.affiliation.countryisoca
hcfmusp.affiliation.countryisofr
hcfmusp.author.externalHARRIS, Sarah C.:Univ South Carolina Greenville, Dept Obstet & Gynecol, Prisma Hlth, Greenville, SC 29607 USA
hcfmusp.author.externalCHONG, Karen:Univ Toronto, Mt Sinai Hosp, Dept Obstet & Gynecol, Prenatal Diag & Med Genet Program, Toronto, ON, Canada
hcfmusp.author.externalCHITAYAT, David:Univ Toronto, Mt Sinai Hosp, Dept Obstet & Gynecol, Prenatal Diag & Med Genet Program, Toronto, ON, Canada
hcfmusp.author.externalGILMORE, Kelly L.:Univ N Carolina, Dept Obstet & Gynecol, Div Maternal Fetal Med, Sch Med, Chapel Hill, NC USA
hcfmusp.author.externalLERARIO, Antonio:Univ Michigan, Dept Internal Med, Div Metab Endocrinol & Diabet, Ann Arbor, MI USA
hcfmusp.author.externalSHANNON, Patrick:Univ Toronto, Mt Sinai Hosp, Dept Pathol & Lab Med, Toronto, ON, Canada
hcfmusp.author.externalCOPE, Heidi:Duke Univ, Ctr Human Dis Modeling, Durham, NC USA
hcfmusp.author.externalGALLENTINE, William B.:Stanford Univ, Lucile Packard Childrens Hosp, Dept Neurol & Pediat, Palo Alto, CA USA
hcfmusp.author.externalGUYADER, Gwenal Le:CHU Poitiers, Serv Genet Clin, Poitiers, France
hcfmusp.author.externalBILAN, Frederic:CHU Poitiers, Serv Genet Clin, Poitiers, France; Univ Poitiers, Lab Neurosci Expt & Clin, INSERM U1084, Poitiers, France
hcfmusp.author.externalLETARD, Pascaline:CHU Poitiers, Serv Genet Clin, Poitiers, France
hcfmusp.author.externalDAVIS, Erica E.:Northwestern Univ, Feinberg Sch Med, Dept Pediat, Chicago, IL USA; Northwestern Univ, Feinberg Sch Med, Dept Cell & Mol Biol, Chicago, IL USA; Ann & Robert H Lurie Childrens Hosp Chicago, Stanley Manne Childrens Res Inst, Chicago, IL USA
hcfmusp.author.externalVORA, Neeta L.:Univ N Carolina, Dept Obstet & Gynecol, Div Maternal Fetal Med, Sch Med, Chapel Hill, NC USA
hcfmusp.citation.scopus1
hcfmusp.contributor.author-fmusphcALEXANDER AUGUSTO DE LIMA JORGE
hcfmusp.contributor.author-fmusphcBRUNA LUCHEZE FREIRE
hcfmusp.description.beginpage1282
hcfmusp.description.endpage1292
hcfmusp.description.issue5
hcfmusp.description.volume191
hcfmusp.origemWOS
hcfmusp.origem.pubmed36826837
hcfmusp.origem.scopus2-s2.0-85148589202
hcfmusp.origem.wosWOS:000939617700001
hcfmusp.publisher.cityHOBOKENeng
hcfmusp.publisher.countryUSAeng
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hcfmusp.scopus.lastupdate2024-05-17
relation.isAuthorOfPublication872493f0-3232-484e-a574-207e16fcf202
relation.isAuthorOfPublication99122591-5016-4a4b-9fb6-187e595ebeae
relation.isAuthorOfPublication.latestForDiscovery872493f0-3232-484e-a574-207e16fcf202
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