Details Of Published TSH Receptor Mutation
Ala 204 Val
c.611C>TInactivating TSH Receptor Mutation
Type
loss
Manifestation
sporadic
Exon
7
Molecular Characteristics:
Patient 6: heterozygous individual
1 sister: wt
1 sister, parents: not examined
1 sister: wt
1 sister, parents: not examined
Clinical Features:
TSH elevated, diagnosed at 5yrs
normal thyroid
normal thyroid
Treatment:
none
Functional Characteristics:
cAMP
(basal)
(basal)
cAMP
(TSH)
(TSH)
IP
(basal)
(basal)
IP
(TSH)
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
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:
Narumi et al.
J Clin Endocrinol Metab 94:1317-1323.
TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study.
2009