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dc.contributor.CRUESPUniversidade Estadual de Campinaspt_BR
dc.typeArtigo de periódicopt_BR
dc.titleMolecular analysis of KAL-1, GnRH-R, NELF and EBF2 genes in a series of Kallmann syndrome and normosmic hypogonadotropic hypogonadism patientspt_BR
dc.contributor.authorTrarbach, EBpt_BR
dc.contributor.authorBaptista, MTMpt_BR
dc.contributor.authorGarmes, HMpt_BR
dc.contributor.authorHackel, Cpt_BR
unicamp.authorUniv Estadual Campinas, Lab Genet Humana, Ctr Biol Mol & Engn Genet, BR-13083970 Campinas, SP, Brazil Univ Estadual Campinas, Hosp Clin, Dept Clin Med, Disciplina Endocrinol, BR-13083970 Campinas, SP, Brazil Univ Estadual Campinas, Fac Ciencias Med, Dept Med Genet, BR-13083970 Campinas, SP, Brazilpt_BR
dc.subject.wosHormone Receptorpt_BR
dc.subject.wosIntragenic Deletionpt_BR
dc.subject.wosCandidate Genept_BR
dc.description.abstractWe report the results of molecular analysis in a series of twelve Kallmann syndrome (KS) and five normosmic hypogonadotropic hypogonadism (nHH) Brazilian patients. Kallman syndrome 1 (RAL-1) gene analysis was performed in all patients and the gonadotrophin releasing hormone receptor (GnRH-R) gene was investigated in nHH patients using PCR analysis with exon-flanking printers followed by automated sequencing techniques. Two-point mutations at the KAL-1 locus were found in two KS patients. One case exhibited a novel C deletion (del1956C) in exon 12 leading to a premature stop codon at position 617. The second case, a C to T transition at exon 3, showed a stop codon at aminoacid 191 (Arg191X). Renal agenesis and bimanual synkinesis, which are frequently found in patients with the KAL-1 Mutation, were observed in these cases. Among the KS patients, two previously reported cases had intragenic deletions of exons 5-10, while a third patient had a KAL-1 gene microdeletion detected by fluorescence in situ hybridization. For the nHH patients, no abnormalities were observed at the exonic and flanking sequences of the KAL-1 or GnRH-R genes. Nasal embryonic LHRH factor (NELF) and early B-cell factor 2 (EBF2) exons were evaluated in KAL-1/GnRH-R mutation-negative cases (seven KS and five nHH) by sequence analysis but 110 Mutations were identified in the coding regions in these patients. In conclusion, this report includes the description of a novel point mutation of the KAL-1 gene and suggests that the KAL-1 Mutations and deletions might be more prevalent in KS Brazilian patients than previously described in other series. NELF and EBF2 genes have been considered good candidates for HH and a large number of patients need to be studied to assess their contribution to reproductive
dc.relation.ispartofJournal Of Endocrinologypt_BR
dc.relation.ispartofabbreviationJ. Endocrinol.pt_BR
dc.publisherSoc Endocrinologypt_BR
dc.identifier.citationJournal Of Endocrinology. Soc Endocrinology, v. 187, n. 3, n. 361, n. 368, 2005.pt_BR
dc.sourceWeb of Sciencept_BR
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