Details Of Published TSH Receptor Mutation

Cys 672 Trp

c.2016T>G

Constitutively Activating TSH Receptor Mutation

Type
gain
Manifestation
family
Exon
10
Olivier Petit
Legend:
Male
Female
Unknown
Deceased
+
Mutation
-
No Mutation
Hyperthyroidism
(Heterozygous)
Goiter
Relapse
P
Index Patient
Molecular Characteristics:
No published data for in vitro characterization 
Clinical Features:
III/4 hyperthyroidism at birth III/3 4 years diagnosed with hyperthyroidism II/1 hyperthyroidism diagnosed at 17 years, I/2 hyperthyroidism diagnosed 27 years  
Treatment:
III/4 propanolol and thiamozole III/3 thiamozole II/1 thiamozole I/2 total thyroidectomy
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
ND
ND
ND
ND
ND
ND
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:
Olivier-Petit et al.
2017
Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation
2017