Details Of Published TSH Receptor Mutation

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Cys 390 Phe

c.1169G>T

Inactivating TSH Receptor Mutation

Type

loss

Manifestation

family

Exon

Molecular Characteristics:

default

Clinical Features:

I/1 and I/2 hypothyroidism, II/3 neonatal hyperthyrotropinaemia, mild thyroid hypoplasia, absent uptake on radioisotope scan

Treatment:

III/1 T4, discontinued at 3 yrs, II/1 T4

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:

Lucas-Herald et al.

J Pediatr Endocrinol Metab

Novel heterozygous thyrotropin receptor mutation presenting with neonatal hyperthyrotropinaemia, mild thyroid hypoplasia and absent uptake on radioisotope scan

2013

Abstract In Medline Available