Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations


Fu J., Korwutthikulrangsri M., GÖNÇ E. N. , Sillers L., Liao X., ALİKAŞİFOĞLU A. , ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.105, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 105 Konu: 3
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1210/clinem/dgz169
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Özet

Context: Selenocysteine insertion sequence binding protein 2 (SECISBP2, SBP2) is an essential factor for selenoprotein synthesis. Individuals with SBP2 defects have characteristic thyroid function test (TFT) abnormalities resulting from deficiencies in the selenoenzymes deiodinases. Eight families with recessive SBP2 gene mutations have been reported to date. We report 2 families with inherited defect in thyroid hormone metabolism caused by 4 novel compound heterozygous mutations in the SBP2 gene.