A new silent germline mutation of the TSH receptor: Coexpression in a hyperthyroid family member with a second activating somatic mutation

GOZU H. I. , MUELLER S., Bircan R., KROHN K., Ekinci G., Yavuzer D., ...More

THYROID, vol.18, no.5, pp.499-508, 2008 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 5
  • Publication Date: 2008
  • Doi Number: 10.1089/thy.2007.0335
  • Journal Name: THYROID
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.499-508


Background: Up to date, three thyroid-stimulating hormone receptor (TSHR) germline variants have been reported for which no functional consequences have been detected by in vitro characterizations. However, familial nonautoimmune hyperthyroidism and hot nodules are clearly associated with constitutively activating TSHR germline mutations. We describe a family with a new TSHR germline mutation that is associated with euthyroidism in 13 family members and hyperthyroidism in 1 family member.