Details Of Published TSH Receptor Mutation
Pro 162 Ala
c.484C>GInactivating TSH Receptor Mutation
Type
loss
Manifestation
sporadic
Exon
7
Molecular Characteristics:
Camilot et al.:
1 non related child heterozygous
Cangul et al.:
one heterozygous individual
Calebiro et al.:
three unrelated heterozygous patients
Vigone et al.
three unrelated individuals,
2 P162A/WT
1 S562G/P162A
1 non related child heterozygous
Cangul et al.:
one heterozygous individual
Calebiro et al.:
three unrelated heterozygous patients
Vigone et al.
three unrelated individuals,
2 P162A/WT
1 S562G/P162A
Clinical Features:
Cangul et al.:
1 individual: moderate TSH resistance
normal thyroid ultrasound
Calebiro et al.:
age of diagnosis: 11yr and 3months, 2yr
1 individual: moderate TSH resistance
normal thyroid ultrasound
Calebiro et al.:
age of diagnosis: 11yr and 3months, 2yr
Treatment:
default
Functional Characteristics:
cAMP
(basal)
(basal)
cAMP
(TSH)
(TSH)
IP
(basal)
(basal)
IP
(TSH)
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
8
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:
Camilot et al.
Clin Endocrinol (Oxf) 63:146-151.
Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.
2005
Reference 2:
Cangul et al.
Clin Endocrinol (Oxf) 73:671-677.
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.
2010
Reference 3:
Vigone et al.
Clinical Endocrinology
Mild TSH resistance: Clinical and hormonal features in childhood and adulthood
2017