Details Of Published TSH Receptor Mutation
Met 453 Arg
c.1358T>CConstitutively Activating TSH Receptor Mutation
Type
gain
Manifestation
sporadic
Exon
10
Molecular Characteristics:
default
Clinical Features:
1 cases of SNAH;
Wong et al. Persistent Sporadic Nonautoimmmune Hyperthyroidism, persistent tachycardia after birth
Wong et al. Persistent Sporadic Nonautoimmmune Hyperthyroidism, persistent tachycardia after birth
Treatment:
Tomonaga et al.: hemi-thyroidectomy
Functional Characteristics:
cAMP
(basal)
(basal)
cAMP
(TSH)
(TSH)
IP
(basal)
(basal)
IP
(TSH)
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
8.53 +/- 1
0.479+/-0.
1
0
nd
0.806+/-0.
1
Legend:
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.
Reference 1:
Wong et al.
Endocrine Journal
alse-positive TSH receptor antibody results in an infant with activating TSHR mutation
2018
Reference 2:
Tomonaga et al.
Journal of Pediatric Surgery Case Reports
A case of congenital autonomous thyroid adenoma with a somatic activating gene mutation in the thyroid-stimulating hormone receptor
2018