Details Of Published TSH Receptor Mutation
Arg 109 Gln
c.326G>AInactivating TSH Receptor Mutation
Type
loss
Manifestation
sporadic
Exon
4
Molecular Characteristics:
default
Clinical Features:
Camilot et al.: subclinical hypothyroidism
Vigone et al. 2 cases of single children reported, no parental or sibling data thus sporadic assumed, subclinical hypothyroidism
Vigone et al. 2 cases of single children reported, no parental or sibling data thus sporadic assumed, subclinical hypothyroidism
Treatment:
default
Functional Characteristics:
cAMP
(basal)
(basal)
cAMP
(TSH)
(TSH)
IP
(basal)
(basal)
IP
(TSH)
(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:
Camilot et al.
Clin Endocrinol (Oxf) 63:146-151.
Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.
2005
Reference 2:
Sugisawa et al.
Clin Pediatr Endocrinol
Identification of compound heterozygous TSHR mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors.
2018
Reference 3:
Fu, Chunyun et al.
Clinica Chimica Acta
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients
2016
Reference 4:
Vigone et al.
Clinical Endocrinology
Mild TSH resistance: Clinical and hormonal features in childhood and adulthood
2017