{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T23:49:15Z","timestamp":1777592955557,"version":"3.51.4"},"reference-count":17,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; Defects in the thyroid peroxidase&lt;i&gt; (TPO)&lt;\/i&gt; gene have been associated with goitrous congenital hypothyroidism (CH). &lt;b&gt;&lt;i&gt;Case Report:&lt;\/i&gt;&lt;\/b&gt; In this study, we report 3 siblings possessing a homozygous mutation, c.1159G&gt;A, but exhibiting different clinical phenotypes in a Malaysian-Malay family. The index patient was diagnosed with CH during a routine neonatal screening but the other 2 siblings appeared to be asymptomatic until the ages of 19 and 12.5, respectively, when they started to develop goiter. &lt;b&gt;&lt;i&gt;Results and Conclusion:&lt;\/i&gt;&lt;\/b&gt; The mutation was predicted to interrupt the correct splicing of pre-mRNA and also lead to structural alterations in the functional sites of the mutant TPO. The current results suggest the association of goiter development with a homozygous c.1159G&gt;A mutation, but the CH in the index patient could be triggered by other genetic and epigenetic factors distinct from the c.1159G&gt;A mutation.<\/jats:p>","DOI":"10.1159\/000359922","type":"journal-article","created":{"date-parts":[[2014,4,4]],"date-time":"2014-04-04T06:48:21Z","timestamp":1396594101000},"page":"356-360","source":"Crossref","is-referenced-by-count":6,"title":["Variable Clinical Phenotypes in a Family with Homozygous c.1159G&gt;A Mutation in the Thyroid Peroxidase&lt;b&gt; &lt;\/b&gt;Gene"],"prefix":"10.1159","volume":"81","author":[{"given":"Ching Chin","family":"Lee","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatimah","family":"Harun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad Yazid","family":"Jalaludin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Choon Han","family":"Heh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rozana","family":"Othman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"In Nee","family":"Kang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarni","family":"Mat Junit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2014,4,4]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2011.0478"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.83.11.5264"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-72-2-471"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.16.5555"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024158"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/987186"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021377"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2007.02869.x"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1101\/gr.176601"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp215"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/S0300-9084(99)80110-2"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1101\/gr.176601"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2009.10.004"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1101\/gr.118638.110"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2010.02.008"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-1832"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/359922","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/359922","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:26:40Z","timestamp":1745429200000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000359922"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":17,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2014,6,1]]},"published-print":{"date-parts":[[2014,6,12]]}},"URL":"https:\/\/doi.org\/10.1159\/000359922","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014]]}}}