Clinical and Molecular Analysis in Two Families with Novel Compound Heterozygous SBP2 (SECISBP2) Mutations

Alexandra Dumitrescu
Context: Selenocysteine insertion sequence binding protein 2 (SECISBP2, SBP2) is an essential factor for selenoprotein synthesis. Individuals with SBP2 defects have characteristic thyroid function tests (TFT) abnormalities due to deficiencies in the selenoenzymes deiodinases. Eight families with recessive SBP2 gene mutations have been reported to date. We report two families with inherited defect in thyroid hormone metabolism caused by four novel compound heterozygous mutations in the SBP2 gene. Case Descriptions: Proband 1 and 2 presented...
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