Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Syntaxin 16

Microdeletion in this gene have been identified to cause Pseudohypoparathyroidism type IB by impaired impriting of the promotor region of the GNAS1 gene.

Gene Structure

The gene spans about 30kb. Two splice variant with 9 and 8 translated exons are indentified.

Genetests:

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

Related Diseases:

Pseudohypoparathyroidism type IB
GNAS
STX16

References:

1.

Bastepe M et al. (1999) Two frequent tetra-nucleotide repeat polymorphisms between VAPB and STX16 on chromosome 20q13.

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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.

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3.

Liu J et al. (2005) Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB.

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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.

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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.

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6.

Jüppner H et al. (2006) Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism.

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7.

Jüppner H et al. (2006) Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus.

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8.

Orphanet article

Orphanet ID 167897 external link
9.

NCBI article

NCBI 8675 external link
10.

OMIM.ORG article

Omim 603666 external link
11.

Wikipedia article

Wikipedia EN (STX16) external link
Update: Aug. 14, 2020
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