Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Microdeletion in this gene have been identified to cause Pseudohypoparathyroidism type IB by impaired impriting of the promotor region of the GNAS1 gene.
The gene spans about 30kb. Two splice variant with 9 and 8 translated exons are indentified.
| 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 | 20 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Methylation test |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| 1. |
Bastepe M et al. (1999) Two frequent tetra-nucleotide repeat polymorphisms between VAPB and STX16 on chromosome 20q13. 
|
| 2. |
Bastepe M et al. (2003) Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
|
| 3. |
Liu J et al. (2005) Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB.
|
| 4. |
Laspa E et al. (2004) Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance.
|
| 5. |
Linglart A et al. (2005) A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.
|
| 6. |
Jüppner H et al. (2006) Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism.
|
| 7. |
Jüppner H et al. (2006) Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus.
|
| 8. |
Orphanet article Orphanet ID 167897
|
| 9. |
NCBI article NCBI 8675
|
| 10. |
OMIM.ORG article Omim 603666
|
| 11. |
Wikipedia article Wikipedia EN (STX16)
|
 |
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
