A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure

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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.authorFRANCA, Monica M.
dc.contributor.authorFUNARI, Mariana F. A.
dc.contributor.authorLERARIO, Antonio M.
dc.contributor.authorNISHI, Mirian Y.
dc.contributor.authorPITA, Carmem C.
dc.contributor.authorFONTENELE, Eveline G. P.
dc.contributor.authorMENDONCA, Berenice B.
dc.date.accessioned2017-12-12T13:14:20Z
dc.date.available2017-12-12T13:14:20Z
dc.date.issued2017
dc.description.abstractPurpose Primary ovarian failure (POF) is characterized by amenorrhea, hypoestrogenism, and elevated gonadotropin levels in women leading to infertility under the age of 40 years. POF is a heterogeneous disease with different causes, and several genes have been associated with the POF phenotype. Thus, Whole-exome sequencing (WES) was performed in a consanguineous family with two sisters affected by POF. Methods All exons of both sisters were massively sequenced by WES, and the segregation was confirmed by Sanger sequencing. Results The novel homozygous c.1489delT variant in the NOBOX gene was identified in the two sisters with POF. Their parents were heterozygous carriers of this variant and, therefore, consistent with an autosomal recessive mode of inheritance. The c.1489delT NOBOX variant has not been previously reported in any public available databases (1000Genomes, 6500ESP/EVS, ExAC, and gnomAD). Furthermore, this variant was neither present in 387 Brazilian exomes control individuals nor in 200 fertile Brazilian women screened by Sanger sequencing. Conclusion We report the first familial case of a novel homozygous NOBOX variant with an autosomal recessive mode of inheritance, thus allowing for a genetic diagnosis of primary ovarian failure.
dc.description.indexMEDLINE
dc.description.sponsorshipFundacao de Amparo a Pesquisa do Estado de Sao Paulo [2014/14231-0, 2013/02162-8, 2014/50137-5]
dc.description.sponsorshipNucleo de Estudos e Terapia Celular e Molecular (NETCEM)
dc.description.sponsorshipConselho Nacional de Desenvolvimento Cientifico e Tecnologico [303002/2016-6]
dc.identifier.citationENDOCRINE, v.58, n.3, p.442-447, 2017
dc.identifier.doi10.1007/s12020-017-1459-2
dc.identifier.eissn1559-0100
dc.identifier.issn1355-008X
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/24178
dc.language.isoeng
dc.publisherSPRINGER
dc.relation.ispartofEndocrine
dc.rightsrestrictedAccess
dc.rights.holderCopyright SPRINGER
dc.subjectNOBOX
dc.subjectPrimary ovarian failure
dc.subjectWhole-exome sequencing
dc.subjectHomozygous variant
dc.subject.othersteroidogenic factor-i
dc.subject.otherinsufficiency
dc.subject.otherexpression
dc.subject.othervariants
dc.subject.othermutation
dc.subject.otherhumans
dc.subject.othercohort
dc.subject.wosEndocrinology & Metabolism
dc.titleA novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.author.externalPITA, Carmem C.:Univ Sao Paulo, Unidade Endocrinol Desenvolvimento, Lab Hormonios & Genet Mol LIM42, Hosp Clin,Disciplina Endocrinol,Fac Med, Sao Paulo, Brazil
hcfmusp.author.externalFONTENELE, Eveline G. P.:Univ Fed Ceara, Hosp Univ Walter Cantidio, Ser Endocrinol & Diabet, Fortaleza, Ceara, Brazil
hcfmusp.citation.scopus17
hcfmusp.contributor.author-fmusphcMONICA MALHEIROS FRANCA
hcfmusp.contributor.author-fmusphcMARIANA FERREIRA DE ASSIS FUNARI
hcfmusp.contributor.author-fmusphcANTONIO MARCONDES LERARIO
hcfmusp.contributor.author-fmusphcMIRIAN YUMIE NISHI
hcfmusp.contributor.author-fmusphcBERENICE BILHARINHO DE MENDONCA
hcfmusp.description.beginpage442
hcfmusp.description.endpage447
hcfmusp.description.issue3
hcfmusp.description.volume58
hcfmusp.origemWOS
hcfmusp.origem.pubmed29067606
hcfmusp.origem.scopus2-s2.0-85032002789
hcfmusp.origem.wosWOS:000415861000005
hcfmusp.publisher.cityNEW YORK
hcfmusp.publisher.countryUSA
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