A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect

dc.creatorSantos, CLS
dc.creatorBikker, H
dc.creatorRego, KGM
dc.creatorNascimento, AC
dc.creatorTambascia, M
dc.creatorde Vijlder, JJM
dc.creatorMedeiros-Neto, G
dc.date1999
dc.dateAUG
dc.date2014-12-02T16:27:28Z
dc.date2015-11-26T18:02:00Z
dc.date2014-12-02T16:27:28Z
dc.date2015-11-26T18:02:00Z
dc.date.accessioned2018-03-29T00:43:39Z
dc.date.available2018-03-29T00:43:39Z
dc.identifierClinical Endocrinology. Blackwell Science Ltd, v. 51, n. 2, n. 165, n. 172, 1999.
dc.identifier0300-0664
dc.identifierWOS:000082023600007
dc.identifier10.1046/j.1365-2265.1999.00746.x
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/76576
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/76576
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/76576
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1292119
dc.descriptionOBJECTIVE To screen and subsequently sequence the TPO gene for mutations in patients with congenital goitre, hypothyroidism and evidence for an organification defect (positive perchlorate discharge test). PATIENTS We have studied seven hypothyroid and congenitally goitrous patients from three unrelated families. DESIGN AND MEASUREMENTS We have measured serum thyroid hormone levels, I-131 uptake, serum TSH and serum Tg concentrations. Denaturing gradient gel electrophoresis (DGGE) of PCR amplified genomic DNA was used to screen for mutations in the TPO gene. RESULTS DGGE identified the presence of two frameshift mutations: a GGCC duplication in exon 8 (homozygous in one family and heterozygous in the other family) and a heterozygous insertion of a single nucleotide (C) at position 2505-2511 in exon 14. In addition, we have detected an alteration in exon 11, not yet described in the literature, derived from a single nucleotide substitution of a C to G at position 2008, altering the well-conserved amino acid domain among the peroxidases superfamily. This mutation in exon II was present in two families that showed heterozygous mutation for exon 8 or for exon 14. CONCLUSIONS These results could support the hypothesis for a putative compound heterozygosity pattern in the affected patients. The altered phenotype (goitre and hypothyroidism since birth) seems justifiable in view of the possible inactivating character of this novel mutation in exon 11.
dc.description51
dc.description2
dc.description165
dc.description172
dc.languageen
dc.publisherBlackwell Science Ltd
dc.publisherOxford
dc.publisherInglaterra
dc.relationClinical Endocrinology
dc.relationClin. Endocrinol.
dc.rightsfechado
dc.sourceWeb of Science
dc.subjectHuman Thyroid Peroxidase
dc.subjectHuman Eosinophil Peroxidase
dc.subjectHuman Myeloperoxidase
dc.subjectMolecular-cloning
dc.subjectCongenital Hypothyroidism
dc.subjectNucleotide-sequence
dc.subjectChromosomal Gene
dc.subjectMessenger-rna
dc.subjectCdna
dc.subjectIdentification
dc.titleA novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect
dc.typeArtículos de revistas


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