dc.creatorRivolta, Carina Marcela
dc.creatorEsperante, Sebastian
dc.creatorGruñeiro Papendieck, Laura
dc.creatorChiesa, Ana Elena
dc.creatorMoya, Christian M.
dc.creatorDomene, Sabina
dc.creatorVarela, Viviana
dc.creatorTargovnik, Hector Manuel
dc.date.accessioned2021-01-21T11:27:23Z
dc.date.accessioned2022-10-15T00:23:45Z
dc.date.available2021-01-21T11:27:23Z
dc.date.available2022-10-15T00:23:45Z
dc.date.created2021-01-21T11:27:23Z
dc.date.issued2003-12
dc.identifierRivolta, Carina Marcela; Esperante, Sebastian; Gruñeiro Papendieck, Laura; Chiesa, Ana Elena; Moya, Christian M.; et al.; Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect; Veterinary and Human Toxicology; Human mutation; 22; 3; 12-2003; 1-5
dc.identifier1098-1004
dc.identifierhttp://hdl.handle.net/11336/123247
dc.identifierCONICET Digital
dc.identifierCONICET
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/4324400
dc.description.abstractThyroid peroxidase (TPO) defects, typically transmitted as autosomal recessive traits, result in hypothyroid goiters with failure to convert iodide into organic iodine. We analyzed the TPO gene in 14 unrelated patients with clinical evidence of iodide organification defects. Seven of the affected individuals harbored mutations in the TPO gene; one was compound heterozygous, the others were simply heterozygous for TPO mutations. Five novel mutations have been identified, one of which was found to be a single nucleotide deletion, while the other four were single nucleotide substitutions. A frameshift mutation c.387delC was detected in exon 5 which leads to an early termination signal in exon 7 (p.N129fsX208). Two missense mutations were identified in exon 8. The first, a c.920A>C transversion that results in a p.N307T substitution, was found in two patients. The second, a c.1297G>A transition, results in p.V433M. A c.1496C>T transition was detected in exon 9 that caused the substitution p.P499L. Finally, in exon 14 a c.2422T>C transition was identified, causing a p.C808R change. In addition, the previously reported GGCC duplication in exon 8 (c.1186_1187insGGCC; p.R396fsX472) was also detected in two affected individuals, one of whom was a compound heterozygous (p.R396fsX472/p.V433M).
dc.languageeng
dc.publisherVeterinary and Human Toxicology
dc.relationinfo:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1002/humu.9175
dc.relationinfo:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.9175
dc.rightshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjecthypothyroidism
dc.subjectgoiter
dc.subjectTPO
dc.subjectmutation screening
dc.subjectcongenital
dc.titleFive novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:ar-repo/semantics/artículo
dc.typeinfo:eu-repo/semantics/publishedVersion


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