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., et al.

THYROID, cilt.18, ss.499-508, 2008 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 18 Konu: 5
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1089/thy.2007.0335
  • Dergi Adı: THYROID
  • Sayfa Sayısı: ss.499-508

Özet

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.