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Article

New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism.

The Journal of clinical endocrinology and metabolism - 1 Sept 2001

Vuissoz J M, Deladoëy J, Buyukgebiz A, Cemeroglu P, Gex G, Gallati S, Mullis P E

Abstract excerpt

We identified a new nonsense mutation of the TSH-beta subunit gene responsible for a severe isolated TSH deficiency in two children from the same consanguineous kindred. These affected children are homozygous for a C-to-T transition at nucleotide 654 of the TSH-beta subunit gene, leading to the conversion of a glutamine (CAG) to a premature stop codon (TAG) in the codon 49 (Q49X). The resulting nascent peptide...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11549695
DOI: 10.1210/jcem.86.9.7876

Genes

PRL
TRH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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