Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thyrotropin subunit beta

The TSHB gene encodes the beta chain of the TSH hormone which specifically stimulates thyroid gland to grow and secrete thyroid hormone. Mutations cause autosomal recessive congenital nongoitrous hypothyroidism 4.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Congenital nongoitrous hypothyroidism 4



Dracopoli NC et al. (1990) Mapping the human amylase gene cluster on the proximal short arm of chromosome 1 using a highly informative (CA)n repeat.


Dacou-Voutetakis C et al. (1990) Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.


Hayashizaki Y et al. (1989) Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit.


Medeiros-Neto G et al. (1996) A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene.


Doeker BM et al. (1998) Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.


Bonomi M et al. (2001) Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene.


Vuissoz JM et al. (2001) New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism.


Pohlenz J et al. (2002) Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.


Brumm H et al. (2002) Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect.


Borck G et al. (2004) Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.


Tokino T et al. (1990) Chromosome regional mapping for the human thyroid stimulating hormone beta subunit (TSHB) gene.


Wondisford FE et al. (1988) Isolation and characterization of the human thyrotropin beta-subunit gene. Differences in gene structure and promoter function from murine species.


Moseley WS et al. (1989) Definition of mouse chromosome 1 and 3 gene linkage groups that are conserved on human chromosome 1: evidence that a conserved linkage group spans the centromere of human chromosome 1.


Dracopoli NC et al. (1988) Two thyroid hormone regulated genes, the beta-subunits of nerve growth factor (NGFB) and thyroid stimulating hormone (TSHB), are located less than 310 kb apart in both human and mouse genomes.


Dracopoli NC et al. (1986) Assignment of the gene for the beta subunit of thyroid-stimulating hormone to the short arm of human chromosome 1.


Wondisford FE et al. (1988) Cloning of the human thyrotropin beta-subunit gene and transient expression of biologically active human thyrotropin after gene transfection.


Naylor SL et al. (1986) Mapping thyrotropin beta subunit gene in man and mouse.


Fukushige S et al. (1986) Chromosomal assignment of human genes for gastrin, thyrotropin (TSH)-beta subunit and C-erbB-2 by chromosome sorting combined with velocity sedimentation and Southern hybridization.


Hayashizaki Y et al. (1985) Molecular cloning of the human thyrotropin-beta subunit gene.


Orphanet article

Orphanet ID 166731 [^]

NCBI article

NCBI 7252 [^]

OMIM.ORG article

Omim 188540 [^]

Wikipedia article

Wikipedia EN (TSHB) [^]
Update: April 29, 2019