Details Of Published TSH Receptor Mutation

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Lys 183 Asn

c.549G>T

Constitutively Activating TSH Receptor Mutation

Type

gain

Manifestation

somatic

Exon

Molecular Characteristics:

No published data for in vitro characterization

Clinical Features:

Gestational thyrotoxicosis due to increased sensitivity to human hCG caused by somatic mutation in TSHR in neonate, toxic adenoma in infant

Treatment:

propanolol, propylthiouracil

Functional Characteristics:

cAMP
(basal)

cAMP
(TSH)

IP
(basal)

IP
(TSH)

TSH-Binding

Cell Surface Expression

Prevalence

LRA

Ref

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:

Kohn et al.

Thyroid

A somatic gain-of-function mutation in the thyrotropin receptor gene producing a toxic adenoma in an infant

2009

Abstract In Medline Available