{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T04:51:24Z","timestamp":1783486284107,"version":"3.55.0"},"reference-count":19,"publisher":"The Endocrine Society","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Context: Pendred syndrome (PS) and thyroid peroxidase (TPO) deficiency are autosomal-recessive disorders that result in thyroid dyshormonogenesis. They share congenital hypothyroidism, goiter, and an iodide organification defect as common features. Whereas the hallmark of PS is sensorineural deafness, other forms of congenital hypothyroidism may also lead to hearing impairment. Therefore, a definite diagnosis may be difficult and require molecular genetic analyses.<\/jats:p>\n               <jats:p>Case Report: The propositus presented at birth with primary hypothyroidism and goiter. He also had congenital bilateral moderate hearing loss, and PS was suspected.<\/jats:p>\n               <jats:p>Methods: We sequenced the SLC26A4\/PDS and TPO genes in the propositus and tested familial segregation of mutations in all available family members who were phenotypically normal. The functional consequences of the identified pendrin mutation (p.R776C) were studied in vitro.<\/jats:p>\n               <jats:p>Results: Sequencing of the SLC26A4\/PDS gene revealed a single monoallelic missense mutation in the propositus (p.R776C). This mutation, which was inherited from his unaffected mother, has previously been identified in an individual with deafness and an enlarged vestibular aqueduct. Sequencing of the TPO gene revealed compound heterozygosity for a novel nonsense mutation (p.Q235X) and a known missense mutation (p.Y453D). The mutant pendrin (p.R776C) retained its ability to transport iodide in vitro.<\/jats:p>\n               <jats:p>Conclusions: These results show that the propositus carries three sequence variants in two genes: a monoallelic SLC26A4\/PDS sequence variant and compound heterozygous TPO mutations. Our study illustrates that if only a single heterozygous SLC26A4\/PDS mutation is found in a patient with goiter and deafness, other genetic explanations should be considered.<\/jats:p>","DOI":"10.1210\/jc.2006-0142","type":"journal-article","created":{"date-parts":[[2006,5,10]],"date-time":"2006-05-10T03:35:54Z","timestamp":1147232154000},"page":"2678-2681","source":"Crossref","is-referenced-by-count":32,"title":["Goitrous Congenital Hypothyroidism and Hearing Impairment Associated with Mutations in the TPO and SLC26A4\/PDS Genes"],"prefix":"10.1210","volume":"91","author":[{"given":"Nicole","family":"Pfarr","sequence":"first","affiliation":[{"name":"Children\u2019s Hospital (N.P., J.P.) D-55101 Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guntram","family":"Borck","sequence":"additional","affiliation":[{"name":"Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U781 (G.B.), Ho\u0302pital Necker-Enfants Malades, F-75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Turk","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Metabolism, and Molecular Medicine (A.T., P.K.), Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Napiontek","sequence":"additional","affiliation":[{"name":"Departments of Ear, Nose, and Throat and Communication Disorders (U.N., A.K.) D-55101 Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annerose","family":"Keilmann","sequence":"additional","affiliation":[{"name":"Departments of Ear, Nose, and Throat and Communication Disorders (U.N., A.K.) D-55101 Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wibke","family":"Mu\u0308ller-Forell","sequence":"additional","affiliation":[{"name":"Institute of Neuroradiology (W.M.-F.), Hospitals of the Johannes Gutenberg University, D-55101 Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kopp","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Metabolism, and Molecular Medicine (A.T., P.K.), Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim","family":"Pohlenz","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital (N.P., J.P.) 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