Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/348669
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dc.contributor.CRUESPUNIVERSIDADE ESTADUAL DE CAMPINASpt_BR
dc.contributor.authorunicampGuerra Júnior, Gil-
dc.contributor.authorunicampBaptista, Maria Tereza Matias-
dc.typeArtigopt_BR
dc.titleA novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadismpt_BR
dc.contributor.authorTeles, M G-
dc.contributor.authorTrarbach, E B-
dc.contributor.authorNoel, S D-
dc.contributor.authorGuerra-Junior, G-
dc.contributor.authorJorge, A-
dc.contributor.authorBeneduzzi, D-
dc.contributor.authorBianco, S D-
dc.contributor.authorMukherjee, A-
dc.contributor.authorBaptista, M T-
dc.contributor.authorCosta, E M-
dc.contributor.authorCastro, M De-
dc.contributor.authorMendonça, B B-
dc.contributor.authorKaiser, U B-
dc.contributor.authorLatronico, A C-
dc.subjectHipogonadismopt_BR
dc.subject.otherlanguageHypogonadismpt_BR
dc.description.abstractLoss-of-function mutations of the kisspeptin-1 receptor gene, KISS1R, have been identified in patients with normosmic isolated hypogonadotropic hypogonadism (nIHH). To investigate KISS1R defects in patients with absent or delayed puberty. We investigated KISS1R gene defects in a cohort of 99 Brazilian patients with nIHH or constitutional delay of puberty (CDP). The entire coding region of KISS1R was amplified by PCR followed by automatic sequencing. In addition, screening for KISS1R exonic deletions was performed by multiplex ligation-dependent probe amplification. One novel homozygous KISS1R mutation was identified in two siblings with nIHH. This variant was an insertion/deletion (indel) mutation characterized by the deletion of three nucleotides (GCA) at position −2 to −4, and by the insertion of seven nucleotides (ACCGGCT) at the same position, within the 3′ splice acceptor site of intron 2 of KISS1R. The brothers who carried this KISS1R mutation had no clinical evidence of pubertal development at the ages of 14 and 20 years. Computational analysis of this indel mutation predicted the generation of an abnormal protein. In addition, a new heterozygous KISS1R variant (p.E252Q) was identified in a male patient with sporadic nIHH. However, in vitro studies of this variant did not demonstrate functional impairment. Only known polymorphisms were identified in patients with CDP. Loss-of-function mutations of KISS1R represents a rare cause of nIHH, and was absent in patients with CDP. We have described a novel KISS1R homozygous splice acceptor site mutation in the familial form of nIHHpt_BR
dc.relation.ispartofEuropean journal of endocrinologypt_BR
dc.relation.ispartofabbreviationEur. j. endocrinol.pt_BR
dc.publisher.cityBristolpt_BR
dc.publisher.countryReino Unidopt_BR
dc.publisherBioScientificapt_BR
dc.date.issued2010-
dc.language.isoengpt_BR
dc.description.volume163pt_BR
dc.description.issuenumber1pt_BR
dc.description.firstpage29pt_BR
dc.description.lastpage34pt_BR
dc.rightsFechadopt_BR
dc.sourceWOSpt_BR
dc.identifier.issn0804-4643pt_BR
dc.identifier.eissn1479-683Xpt_BR
dc.identifier.doi10.1530/EJE-10-0012pt_BR
dc.identifier.urlhttps://eje.bioscientifica.com/view/journals/eje/163/1/29.xmlpt_BR
dc.description.sponsorshipFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESPpt_BR
dc.description.sponsordocumentnumber05/04726; 0550146-5pt_BR
dc.date.available2020-09-03T18:45:37Z-
dc.date.accessioned2020-09-03T18:45:37Z-
dc.description.provenanceSubmitted by Mariana Aparecida Azevedo (mary1@unicamp.br) on 2020-09-03T18:45:37Z No. of bitstreams: 0. Added 1 bitstream(s) on 2021-01-04T15:12:34Z : No. of bitstreams: 1 000279069000005.pdf: 279294 bytes, checksum: 40f23a2baceacb4be7ac43a085ea4119 (MD5)en
dc.description.provenanceMade available in DSpace on 2020-09-03T18:45:37Z (GMT). No. of bitstreams: 0 Previous issue date: 2010en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/348669-
dc.contributor.departmentDepartamento de Pediatriapt_BR
dc.contributor.departmentDepartamento de Clínica Médicapt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.subject.keywordKISS1Rpt_BR
dc.identifier.source000279069000005pt_BR
dc.creator.orcid0000-0002-2991-7678pt_BR
dc.creator.orcidsem informaçãopt_BR
dc.type.formEstudo clínicopt_BR
dc.description.sponsorNoteThis work was supported in part by grants from Fundação de Amparo Estado de São Paulo – FAPESP, processos # 05/04726- (ACL and MGT) and 0550146-5 (MGT) and by the Eunice Kennedy Shriver NICHD/NIH through cooperative agreement U54 HD28138 as part of the Specialized Cooperative Centers Program in Reproduction and Infertility Research (UBK)pt_BR
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