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Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism.

2005Journal article Open access
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dc.contributor.authorRodrigues, Carina
dc.contributor.authorJorge, Paula
dc.contributor.authorSoares, José Pires
dc.contributor.authorSantos, Isaura
dc.contributor.authorSalomão, Regina
dc.contributor.authorMadeira, Manuela
dc.contributor.authorVaz-Osório, Rui
dc.contributor.authorSantos, Rosário
dc.date.accessioned2011-06-14T14:19:17Z
dc.date.available2011-06-14T14:19:17Z
dc.date.issued2005
dc.description.abstractDefects in the human thyroid peroxidase (TPO) gene are reported to be one of the causes of congenital hypothyroidism (CH) due to a total iodide organification defect. The aim of the present study was to determine the nature and frequency of TPO gene mutations in patients with CH, characterised by elevated TSH levels and orthotopic thyroid gland, identified in the Portuguese National Neonatal Screening Programme. Subjects and methods: The sample comprised 55 patients, from 53 unrelated families, with follow-up in the endocrinology clinics of the treatment centres of Porto and Lisbon. Mutation screening in the TPO gene (exons 1–17) was performed by single-strand conformational analysis followed by sequencing of fragments with abnormal migration patterns. Results: Eight different mutations were detected in 13 patients (seven homozygotes and six compound heterozygotes). Novel mutations included three missense mutations, namely 391T . C (S131P), 1274A . G (N425S) and 2512T .A (C838S), as well as the predictable splice mutation 2748G . A (Q916Q/spl?). The undocumented polymorphism 180-47A . C was also detected. Conclusion: The results are in accordance with previous observations confirming the genetic heterogeneity of TPO defects. The proportion of patients in which the aetiology was determined justifies the implementation of this molecular testing in our CH patients with dyshormonogenesis.por
dc.description.sponsorshipComissão de Fomento da Investigação em Cuidados da Saude do ministério da saúde(projecto no. 163/99, Edital no.898/98).por
dc.identifier.citationRodrigues, C; Jorge, Paula; Pires Soares, José; Santos, Isaura; Salomão, Regina; Madeira, Manuela; Vaz-Osório, Rui; Santos, Rosário (2005). Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism. Society of the European Journal of Endocrinology. ISSN 0804-4643, 152:2, p. 193-198por
dc.identifier.doi10.1530/eje.1.01826
dc.identifier.issn0804-4643
dc.identifier.urihttp://hdl.handle.net/10198/5171
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherSociety of the European Journal of Endocrinologypor
dc.titleMutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism.por
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceSociety of the European Journal of Endocrinologypor
oaire.citation.endPage198por
oaire.citation.startPage193por
oaire.citation.titleEuropean Journal of Endocrinologypor
person.familyNameRodrigues
person.givenNameCarina
person.identifier.ciencia-idC415-C677-0253
person.identifier.orcid0000-0001-9773-1413
rcaap.rightsopenAccesspor
rcaap.typearticlepor
relation.isAuthorOfPublicationef666665-6593-48be-bc48-6a1bb58bedbd
relation.isAuthorOfPublication.latestForDiscoveryef666665-6593-48be-bc48-6a1bb58bedbd

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