Details Of Published TSH Receptor Mutation
Leu 512 Metc.1534C>A
Constitutively Activating TSH Receptor Mutation
No published data for in vitro characterization
neonatal hyperthyroidism characterized by accelerated growth, enlarging head circumference, tremor and thyrotoxicosis in 6mo
antithyroid drug, long term plan includes either near total thyroidectomy or radioactive iodine ablation
Cell Surface Expression
cAMP (basal): basal in vitro cAMP production of mutant over wild-type TSHR
cAMP (TSH): maximal in vitro cAMP production of mutant over wild-type TSHR
IP (basal): basal in vitro IP production of mutant over wild-type TSHR
IP (TSH): maximal in vitro IP production of mutant over wild-type TSHR
TSH-binding: maximal TSH-binding compared to the wild-type TSHR
Cell surface expression: cell surface expression of mutant compared to WT-TSHR
LRA: linear regression analysis (LRA) of constitutive activity as a function of TSHR expression determined by 125I-bTSH binding or FACS analysis compared to the wild-type TSHR
Prevalence: Prevalence of (somatic and germline) activating mutations*
Ref: Reference for functional characterization
Child: Found in children.
Roberts et al.
Journal of Pediatric Endocrinology and Metabolism
Novel germline mutation (Leu512Met) in the thyrotropin receptor gene (TSHR) leading to sporadic non-autoimmune hyperthyroidism.