Details Of Published TSH Receptor Mutation

317

c.317+1G->A

Inactivating TSH Receptor Mutation

Type
loss
Manifestation
family
Exon
10
Molecular Characteristics:
splice site +1G>A 
Clinical Features:
II/2 and II/3 neonatal congenital hypothyroidism (homozygous), heterozygous parents and sibling showed no signs 
Treatment:
default
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(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:
Cangul et al.
Journal of Pediatric Endocrinology and Metabolism 
An essential splice site mutation (c. 317+ 1G> A) in the TSHR gene leads to severe thyroid dysgenesis
2014