{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T00:14:20Z","timestamp":1777940060807,"version":"3.51.4"},"reference-count":0,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2008,7,1]],"date-time":"2008-07-01T00:00:00Z","timestamp":1214870400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Thyroid\u00ae"],"published-print":{"date-parts":[[2008,7]]},"abstract":"\n \n Background:<\/jats:italic>\n Thyroglobulin (Tg) is a large glycoprotein that is intimately involved in the biosynthesis of thyroxine and triiodothyronine. At least 38 mutations have been described in the Tg gene that are associated with varying degrees of hypothyroidism. We studied the Tg gene in four related subjects with congenital hypothyroidism.\n <\/jats:bold>\n <\/jats:p>\n \n \n Summary:<\/jats:italic>\n We found a novel compound heterozygous constellation (IVS30 + 1G>T\/A2215D) in a brother and sister and one previously described related mutation (IVS30+1G>T) in their two sibling second degree cousins. The brother with the IVS30 + 1G>T\/A2215D mutation and the two siblings with the IVS30+1G>T mutation had fetal or neonatal goiter and all had hypothyroidism.\n <\/jats:bold>\n <\/jats:p>\n \n \n Conclusions:<\/jats:italic>\n This study further confirms the association of the IVS30+G>T mutation of the Tg gene with hypothyroidism. Computer analysis predicts that the A2215D mutation, first reported here, should cause structural instability of Tg but when present as a compound heterozygous mutation with IVS30+G>T\/A its effect is unclear but is likely to be influenced by iodine intake.\n <\/jats:bold>\n <\/jats:p>","DOI":"10.1089\/thy.2007.0321","type":"journal-article","created":{"date-parts":[[2008,7,17]],"date-time":"2008-07-17T03:24:20Z","timestamp":1216265060000},"page":"783-786","source":"Crossref","is-referenced-by-count":29,"title":["Phenotypic Variation Among Four Family Members with Congenital Hypothyroidism Caused by Two Distinct Thyroglobulin Gene Mutations"],"prefix":"10.1177","volume":"18","author":[{"given":"Viviane","family":"Pardo","sequence":"first","affiliation":[{"name":"Thyroid Study Unit (LIM-25), Division of Endocrinology, University of S\u00e3o Paulo Medical School, S\u00e3o Paulo, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ileana G.S.","family":"Rubio","sequence":"additional","affiliation":[{"name":"Thyroid Study Unit (LIM-25), Division of Endocrinology, University of S\u00e3o Paulo Medical School, S\u00e3o Paulo, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meyer","family":"Knobel","sequence":"additional","affiliation":[{"name":"Thyroid Study Unit (LIM-25), Division of Endocrinology, University of S\u00e3o Paulo Medical School, S\u00e3o Paulo, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manoel H.","family":"Aguiar-Oliveira","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Federal University of Sergipe Medical School, Aracaj\u00fa, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcos M.","family":"Santos","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Federal University of Sergipe Medical School, Aracaj\u00fa, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone A.","family":"Gomes","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Federal University of Sergipe Medical School, Aracaj\u00fa, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla R.P.","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Federal University of Sergipe Medical School, Aracaj\u00fa, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hector M.","family":"Targovnik","sequence":"additional","affiliation":[{"name":"Facultad de Farmacia y Bioqu\u00edmica, Universidad de Buenos Aires, Buenos Aires, Argentina."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geraldo","family":"Medeiros-Neto","sequence":"additional","affiliation":[{"name":"Thyroid Study Unit (LIM-25), Division of Endocrinology, University of S\u00e3o Paulo Medical School, S\u00e3o Paulo, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2008,7,1]]},"container-title":["Thyroid\u00ae"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2007.0321","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2007.0321","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T05:37:33Z","timestamp":1777700253000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/thy.2007.0321"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,7]]},"references-count":0,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2008,7]]}},"alternative-id":["10.1089\/thy.2007.0321"],"URL":"https:\/\/doi.org\/10.1089\/thy.2007.0321","relation":{},"ISSN":["1050-7256","1557-9077"],"issn-type":[{"value":"1050-7256","type":"print"},{"value":"1557-9077","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,7]]}}}