TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews.

ABSTRACT:

Objective

Bi-allelic loss-of-function mutations in TSHB, encoding the beta subunit of thyroid-stimulating hormone (TSH), cause congenital hypothyroidism. Homozygosity for the TSHB p.R75G variant, previously described in South Asian individuals, does not alter TSH function but abrogates its detection by some immune detection-based platforms, leading to erroneous diagnosis of hyperthyroidism. We set out to identify and determine the carrier rate of the p.R75G variant among clinically euthyroid Bene Israel Indian Jews, to examine the possible founder origin of this variant worldwide, and to determine the phenotypic effects of its heterozygosity.

Design

Molecular genetic studies of Bene Israel Jews and comparative studies with South Asian cohort.

Methods

TSHB p.R75G varia

SUBMITTER: Shaki D 

PROVIDER: S-EPMC9142811 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature