Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.

ABSTRACT:

Context

Resistance to TSH (RTSH) is a condition of impaired responsiveness of the thyroid gland to TSH, characterized by elevated serum TSH, low or normal thyroid hormone levels, and hypoplastic or normal-sized thyroid gland.

Objectives

The aim of the study was to evaluate the clinical course and the genotype-phenotype relationship of RTSH caused by two different TSH receptor (TSHR) gene mutations in a consanguineous population.

Patients and methods

We conducted a clinical and genetic investigation of 46 members of an extended family and 163 individuals living in the same town. In vitro functional studies of the mutant TSHRs were also performed.

Results

Two TSHR gene mutations (P68S and L653V) were identified in 33 subjects occurring as homozygous L653V (five s

SUBMITTER: Tenenbaum-Rakover Y 

PROVIDER: S-EPMC2684469 | biostudies-literature | 2009 May

REPOSITORIES: biostudies-literature