Details Of Published TSH Receptor Mutation

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Cys 283 Tyr

c.848G>A

Inactivating TSH Receptor Mutation

Type

loss

Manifestation

family

Exon

Molecular Characteristics:

Congenital hypothyroidism and bilateral ptosis, also found in 2/5 siblings of index patient

Clinical Features:

Treatment:

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:

Marinescu et al.

Journal of Endocrine Society

MON-265 Congenital Hypothyroidism and Bilateral Ptosis Due to a Novel TSHR Gene Mutation

2019

Abstract In Medline Available