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Por favor, use este identificador para citar o enlazar a este item: http://hdl.handle.net/10261/25059
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dc.contributor.authorPalos, Fernando-
dc.contributor.authorObregón, María Jesús-
dc.contributor.authorCalvo, Rosa M.-
dc.contributor.authorCameselle, José C.-
dc.contributor.authorLado-Abeal, Joaquín-
dc.date.accessioned2010-06-07T13:23:45Z-
dc.date.available2010-06-07T13:23:45Z-
dc.date.issued2008-01-
dc.identifier.citationJournal of Clinical Endocrinology and Metabolism 93(1): 267-277 (2008)en_US
dc.identifier.issn0021-972X-
dc.identifier.urihttp://hdl.handle.net/10261/25059-
dc.description11 pages, 6 figures, 2 tables.-- et al.en_US
dc.description.abstract[Context]: We studied two families from Galicia (northwest Spain) with Pendred syndrome (PS) and unusual thyroid phenotypes. In family A, the proposita had a large goiter and hypothyroxinemia but normal TSH and free T3 (FT3). In family B, some affected members showed deafness but not goiter. [Objective]: Our objective was to identify the mutations causing PS and molecular mechanisms underlying the thyroid phenotypes. [Interventions]: Interventions included extraction of DNA and of thyroid tissue. PATIENTS: Propositi and 10 members of the two families participated in the study. MAIN OUTCOME [Measures]: Main outcome measures included SLC26A4 gene analysis, deiodinase activities in thyroid tissue, and c.416-1G-->A effects on SLC26A4 splicing. In addition, a primary PS thyrocyte culture, T-PS2, was obtained from propositus B and compared with another culture of normal human thyrocytes, NT, by Western blotting, confocal microscopy, and iodine uptake kinetics. RESULTS: Proposita A was heterozygous for c.578C-->T and c.279delT, presented with goiter, and had normal TSH and FT3 but low FT4 attributable to high type 1 and type 2 iodothyronine deiodinase activities in the goiter. Propositus B bore c.279delT and a novel mutation c.416-1G-->A; some deaf relatives were homozygous for c.416-1G-->A but did not present goiter. The c.279delT mutation was associated with identical haplotype in the two families. T-PS2 showed truncated pendrin retained intracellularly and high iodine uptake with low efflux leading to iodine retention. [Conclusions]: c.279delT is a founder mutation in Galicia. Proposita A adapted to poor organification by increasing deiodinase activities in the goiter, avoiding hypothyroidism. Lack of goiter in subjects homozygous for c.416-1G-->A was due to incomplete penetrance allowing synthesis of some wild-type pendrin. Intracellular iodine retention, as seen in T-PS2, could play a role in thyroid alterations in PS.en_US
dc.description.sponsorshipThis study was supported by FIS PI030401 (to J.L.-A.) and PI060209 (to J.C.T.), Xunta de Galicia PGIDIT04PXIC20801PN (to J.L.-A.), PGIDIT03PX191801PR (to D.A.-V.), and PGIDIT05BTF20803P (to C.V.A.), Ministerio de Educuación y Ciencia SAF2004-03131 and SAF2006-01319 (to M.J.O.), CMKP 501-2-1-22-05/-12/06 (to B.C.), and National Institutes of Health Grants DK15070 (to S.R.) and RR00055 (to S.R.).en_US
dc.format.extent1418133 bytes-
dc.format.mimetypeapplication/pdf-
dc.language.isoengen_US
dc.publisherEndocrine Societyen_US
dc.rightsopenAccessen_US
dc.titlePendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studiesen_US
dc.typeartículoen_US
dc.identifier.doi10.1210/jc.2007-0539-
dc.description.peerreviewedPeer revieweden_US
dc.relation.publisherversionhttp://dx.doi.org/10.1210/jc.2007-0539en_US
dc.identifier.pmid17940114-
dc.type.coarhttp://purl.org/coar/resource_type/c_6501es_ES
item.languageiso639-1en-
item.fulltextWith Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.grantfulltextopen-
item.openairetypeartículo-
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