Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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 |
| 1. |
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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| 2. |
Malpuech G et al. (1988) Isolated familial adrenocorticotropin deficiency: prenatal diagnosis by maternal plasma estriol assay.
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| 3. |
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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| 4. |
Packham EA et al. (2003) T-box genes in human disorders.
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| 5. |
Metherell LA et al. (2004) TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency.
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| 6. |
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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| 7. |
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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| 8. |
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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