Details Of Published TSH Receptor Mutation
Leu 555 Stop
Del555-561Inactivating TSH Receptor Mutation
Type
loss
Manifestation
family
Exon
10
Pedigree 1 (Camilot et al.)
-image missing-
Legend:
![](/components/com_tshr/assets/images/male.gif)
Male
![](/components/com_tshr/assets/images/female.gif)
Female
![](/components/com_tshr/assets/images/unknown.gif)
Unknown
![](/components/com_tshr/assets/images/deceased.gif)
Deceased
+
Mutation
-
Wild-Type
![](/components/com_tshr/assets/images/s5.gif)
Heterozygous
![](/components/com_tshr/assets/images/s6.gif)
Heterozygous
![](/components/com_tshr/assets/images/s4.gif)
Compound Heterozygous
![](/components/com_tshr/assets/images/s10.gif)
Homozygous
![](/components/com_tshr/assets/images/s7.gif)
Hypothyroid
![](/components/com_tshr/assets/images/s9.gif)
Hypoplastic Gland + Hypothyroid
P
Index Patient
Molecular Characteristics:
Del555-561 TATTCCT
frameshift and premature stop at codon 608
frameshift and premature stop at codon 608
Clinical Features:
mother and propositus: heterozygous
subclinical hypothyroidism
subclinical hypothyroidism
Treatment:
default
Functional Characteristics:
cAMP
(basal)
(basal)
cAMP
(TSH)
(TSH)
IP
(basal)
(basal)
IP
(TSH)
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
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:
Camilot et al.
Clin Endocrinol (Oxf) 63:146-151.
Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.
2005