Details Of Published TSH Receptor Mutation

Pro 68 Ser

c.202C>T

Inactivating TSH Receptor Mutation

Type
loss
Manifestation
sporadic
Exon
1
Molecular Characteristics:
Calebiro et al.:
2 unrelated heterozygous patients

Vigone et al. 2 unrelated instances of P68S/WT, 1 L57EfsX4/P68S 
Clinical Features:
Calebiro et al.:
age at diagnosis 2months, 3yr and 10months

Vigone et al. 1 SCH, 1 CH
L57EfsX4/P68S: subclinical hypothyroidism  
Treatment:
L-T4
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
5
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:
Calebiro et al.
J Clin Endocrinol Metab 97:156-160.
Frequent TSH Receptor Genetic Alterations with Variable Signaling Impairment in a Large Series of Children with Nonautoimmune Isolated Hyperthyrotropinemia.
2012
Reference 2:
Vigone et al.
Clinical Endocrinology
Mild TSH resistance: Clinical and hormonal features in childhood and adulthood
2017