Details Of Published TSH Receptor Mutation
Asp 619 Gly
c.1856A>GConstitutively Activating TSH Receptor Mutation
Type
gain
Manifestation
sporadic
Exon
10
Molecular Characteristics:
Clinical Features:
tachycardia detected 13yo, euthyroidism attained with MMI, reoccurrence 25yo
Treatment:
total thyroidectomy
Functional Characteristics:
cAMP
(basal)
(basal)
cAMP
(TSH)
(TSH)
IP
(basal)
(basal)
IP
(TSH)
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.4-1.8
0.9-1.0
0.9
0.8-0.9
-
0.6
1
-
226
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:
Nishihara et al.
AACE Clinical Case Reports
LONG-TERM FOLLOW-UP OF A PATIENT WITH
SPORADIC NONAUTOIMMUNE HYPERTHYROIDISM DUE
TO A THYROTROPIN-RECEPTOR MUTATION (D619G)
2018