Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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T-box transcription factor TBX19

The TBX19 gene encodes a transcription factor that is only seen in ACTH secreting pituitary cells. Mutations cause autosomal recessive congenital isolated ACTH deficiency.


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

Related Diseases:

Congenital isolated ACTH deficiency



Yi CH et al. (1999) Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19.

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Malpuech G et al. (1988) Isolated familial adrenocorticotropin deficiency: prenatal diagnosis by maternal plasma estriol assay.

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Lamolet B et al. (2001) A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins.

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Packham EA et al. (2003) T-box genes in human disorders.

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Metherell LA et al. (2004) TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency.

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Vallette-Kasic S et al. (2005) Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.

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Vallette-Kasic S et al. (2007) The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: protein interactions.

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Couture C et al. (2012) Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.

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Update: Aug. 14, 2020
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