Details Of Published TSH Receptor Mutation

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Arg 528 Cys

c.1582C>T

Inactivating TSH Receptor Mutation

Type
loss
Manifestation
family
Exon
10
Legend:
Male
Female
Unknown
Deceased
+
Mutation
-
Wild-Type
Heterozygous
Heterozygous
Compound Heterozygous
Homozygous
Hypothyroid
Hypoplastic Gland + Hypothyroid
P
Index Patient
Molecular Characteristics:
heterozygous R528 and 392+4del4 in each parent, homozygous co-occuring in index patient 
Clinical Features:
thyroid hypoplasia, 2 y/o M II/2, sister II/1 R528C slight goiter , I/1 mother R582C slight goiter 
Treatment:
levothyroxine
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:
Qiu et al.
Endocrine Research
Two novel TSHR gene mutations (p. R528C and c. 392+ 4del4) associated with congenital hypothyroidism
2016
Abstract In Medline Available