Details Of Published TSH Receptor Mutation

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Tyr 444 Stop

c.1332C>G

Inactivating TSH Receptor Mutation

Type
loss
Manifestation
family
Exon
9
Pedigree 1 - Jeziorowska et al.
Legend:
Male
Female
Unknown
Deceased
+
Mutation
-
Wild-Type
Heterozygous
Heterozygous
Compound Heterozygous
Homozygous
Hypothyroid
Hypoplastic Gland + Hypothyroid
P
Index Patient
Molecular Characteristics:
I/1 I/2: heterozygous
II/2 homozygous (girl)
II/1 wild type (girl) 
Clinical Features:
diagnosis:
4 days, overt hypothyroidism
normal psychomotor and psychological development
thyroid hypoplasia at 7yr (2.1ml)
normal growth, bone maturation, hearing and intelligence
I/2, I/1, II/1: euthyroid
father: small goiter
 
Treatment:
L-T4 since 10th day
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:
Jeziorowska et al.
Thyroid 16:1303-1309.
A novel mutation in the thyrotropin (thyroid-stimulating hormone) receptor gene in a case of congenital hypothyroidism.
2006
Abstract In Medline Available