Details Of Published TSH Receptor Mutation

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Asp 633 Glu

c1899C>G

Constitutively Activating TSH Receptor Mutation

Type

gain

Manifestation

sporadic

Exon

Molecular Characteristics:

heterozygous D633E

Clinical Features:

fetal tachycardia, persistent tachycardia, at 3 months of age, the patient had craniosynostosis and hydrocephalus, and underwent a ventriculoperitoneal shunt operation.

Treatment:

Functional Characteristics:

cAMP
(basal)

cAMP
(TSH)

IP
(basal)

IP
(TSH)

TSH-Binding

Cell Surface Expression

Prevalence

LRA

Ref

3.9

1.0

0.9-1.3

0.6

0.7

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:

Cho et al.

Ann Pediatr Endocrinol Metab

Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene

2018

Abstract In Medline Available