Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland.

ABSTRACT:

Objective

Homozygous mutations in the TSH beta subunit gene (TSHB) result in severe, isolated, central congenital hypothyroidism (CCH). This entity evades diagnosis in TSH-based congenital hypothyroidism (CH) screening programmes in the UK and Ireland. Accordingly, genetic diagnosis, enabling ascertainment of affected relatives in families, is critical for prompt diagnosis and treatment of the disorder.

Design, patients and measurements

Four cases of isolated TSH deficiency from three unrelated families in the UK and Ireland were investigated for mutations or deletions in TSHB. Haplotype analysis, to investigate a founder effect, was undertaken in cases with identical mutations (c.373delT).

Results

Two siblings in kindred 1 were homozygous for a previously described T

SUBMITTER: Nicholas AK 

PROVIDER: S-EPMC5324561 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature