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DC Field | Value | Language |
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dc.contributor | Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP | - |
dc.contributor.author | FRANCA, Monica M. | - |
dc.contributor.author | FUNARI, Mariana F. A. | - |
dc.contributor.author | LERARIO, Antonio M. | - |
dc.contributor.author | NISHI, Mirian Y. | - |
dc.contributor.author | PITA, Carmem C. | - |
dc.contributor.author | FONTENELE, Eveline G. P. | - |
dc.contributor.author | MENDONCA, Berenice B. | - |
dc.date.accessioned | 2017-12-12T13:14:20Z | - |
dc.date.available | 2017-12-12T13:14:20Z | - |
dc.date.issued | 2017 | - |
dc.identifier.citation | ENDOCRINE, v.58, n.3, p.442-447, 2017 | - |
dc.identifier.issn | 1355-008X | - |
dc.identifier.uri | https://observatorio.fm.usp.br/handle/OPI/24178 | - |
dc.description.abstract | Purpose 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.sponsorship | Fundacao de Amparo a Pesquisa do Estado de Sao Paulo [2014/14231-0, 2013/02162-8, 2014/50137-5] | - |
dc.description.sponsorship | Nucleo de Estudos e Terapia Celular e Molecular (NETCEM) | - |
dc.description.sponsorship | Conselho Nacional de Desenvolvimento Cientifico e Tecnologico [303002/2016-6] | - |
dc.language.iso | eng | - |
dc.publisher | SPRINGER | - |
dc.relation.ispartof | Endocrine | - |
dc.rights | restrictedAccess | - |
dc.subject | NOBOX | - |
dc.subject | Primary ovarian failure | - |
dc.subject | Whole-exome sequencing | - |
dc.subject | Homozygous variant | - |
dc.subject.other | steroidogenic factor-i | - |
dc.subject.other | insufficiency | - |
dc.subject.other | expression | - |
dc.subject.other | variants | - |
dc.subject.other | mutation | - |
dc.subject.other | humans | - |
dc.subject.other | cohort | - |
dc.title | A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure | - |
dc.type | article | - |
dc.rights.holder | Copyright SPRINGER | - |
dc.identifier.doi | 10.1007/s12020-017-1459-2 | - |
dc.identifier.pmid | 29067606 | - |
dc.subject.wos | Endocrinology & Metabolism | - |
dc.type.category | original article | - |
dc.type.version | publishedVersion | - |
hcfmusp.author.external | PITA, Carmem C.:Univ Sao Paulo, Unidade Endocrinol Desenvolvimento, Lab Hormonios & Genet Mol LIM42, Hosp Clin,Disciplina Endocrinol,Fac Med, Sao Paulo, Brazil | - |
hcfmusp.author.external | FONTENELE, Eveline G. P.:Univ Fed Ceara, Hosp Univ Walter Cantidio, Ser Endocrinol & Diabet, Fortaleza, Ceara, Brazil | - |
hcfmusp.description.beginpage | 442 | - |
hcfmusp.description.endpage | 447 | - |
hcfmusp.description.issue | 3 | - |
hcfmusp.description.volume | 58 | - |
hcfmusp.origem | WOS | - |
hcfmusp.origem.id | 2-s2.0-85032002789 | - |
hcfmusp.origem.id | WOS:000415861000005 | - |
hcfmusp.publisher.city | NEW YORK | - |
hcfmusp.publisher.country | USA | - |
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dc.description.index | MEDLINE | - |
dc.identifier.eissn | 1559-0100 | - |
hcfmusp.citation.scopus | 17 | - |
hcfmusp.scopus.lastupdate | 2024-04-12 | - |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MCM Artigos e Materiais de Revistas Científicas - HC/ICESP Artigos e Materiais de Revistas Científicas - HC/ICHC Artigos e Materiais de Revistas Científicas - LIM/42 |
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