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Clinical and Genetic Characterization of Portuguese Patients with Pseudohypoparathyroidism Type Ib

dc.contributor.authorCavaco, B
dc.contributor.authorTomaz, R
dc.contributor.authorFonseca, F
dc.contributor.authorMascarenhas, MR
dc.contributor.authorLeite, V
dc.contributor.authorSobrinho, L
dc.date.accessioned2016-05-05T14:11:32Z
dc.date.available2016-05-05T14:11:32Z
dc.date.issued2010-06
dc.description.abstractPatients with pseudohypoparathyroidism type Ib (PHP-Ib) present hypocalcemia and hyperphosphatemia, as a consequence of a resistance to PTH action, through its G-protein-coupled receptor, in the renal tubules. This resistance results from tissue-specific silencing of the G-protein alpha-subunit (G(s)α), due to imprinting disruption of its encoding locus--GNAS. In familial PHP-Ib, maternally inherited deletions at the STX16 gene are associated to a regional GNAS methylation defect. In sporadic PHP-Ib, broad methylation changes at GNAS arise from unknown genetic causes. In this study, we describe the clinical presentation of PHP-Ib in four Portuguese patients (two of whom were siblings), and provide further insight for the management of patients with this disease. The diagnosis of PHP-Ib was made after detection of GNAS imprinting defects in each of the cases. In the siblings, a regional GNAS methylation change resulted from a known 3.0 kb STX16 deletion. In the other two patients, the broad methylation defects at GNAS, which were absent in their relatives, resulted from genetic alterations that remain to be identified. We report the first clinical and genetic study of Portuguese patients with PHP-Ib. The genetic identification of a hereditary form of this rare disease allowed an early diagnosis, and may prevent hypocalcemia-related complications.pt_PT
dc.identifier.citationEndocrine. 2010 Jun;37(3):408-14pt_PT
dc.identifier.doi10.1007/s12020-010-9321-9pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2468
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringerpt_PT
dc.subjectHCC ENDpt_PT
dc.subjectGTP-Binding Protein alpha Subunits, Gs/geneticspt_PT
dc.subjectPortugalpt_PT
dc.subjectPseudohypoparathyroidism/diagnosispt_PT
dc.subjectPseudohypoparathyroidism/geneticspt_PT
dc.subjectSyntaxin 16/geneticspt_PT
dc.titleClinical and Genetic Characterization of Portuguese Patients with Pseudohypoparathyroidism Type Ibpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage414pt_PT
oaire.citation.startPage408pt_PT
oaire.citation.titleEndocrinept_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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