Details Of Published TSH Receptor Mutation

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Cys 672 Trp

c.2016T>G

Constitutively Activating TSH Receptor Mutation

Type

gain

Manifestation

family

Exon

Olivier Petit

Legend:

Male

Female

Unknown

Deceased

Mutation

No Mutation

Hyperthyroidism
(Heterozygous)

Goiter

Relapse

Index Patient

Molecular Characteristics:

No published data for in vitro characterization

Clinical Features:

III/4 hyperthyroidism at birth III/3 4 years diagnosed with hyperthyroidism II/1 hyperthyroidism diagnosed at 17 years, I/2 hyperthyroidism diagnosed 27 years

Treatment:

III/4 propanolol and thiamozole III/3 thiamozole II/1 thiamozole I/2 total thyroidectomy

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:

Olivier-Petit et al.

2017

Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation

2017

Abstract In Medline Available