WFS1 Gene Sequencing Test Details
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Background
Pathogenic variants in the WFS1 gene can cause a range of conditions collectively known as the WFS1-related disorders. These disorders include isolated autosomal dominant low frequency hearing loss (DFNA6/14/38), Wolfram-like disease, and Wolfram syndrome.
DFNA6/14/38 is inherited in an autosomal dominant pattern and is characterized by sensorineural hearing loss that is typically congenital, progressive and affects the lower frequencies (≥2,000 Hz).
Read More...Wolfram syndrome is a rare autosomal recessive condition characterized by juvenile onset diabetes mellitus and progressive optic atrophy (Wolfram and Wagner 1938). It is also known by the acronym DIDMOAD which describes the main features identified in individuals including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Additional symptoms include progressive neurologic abnormalities and endocrine abnormalities.
Wolfram-like disease is a rare autosomal dominant condition characterized by low frequency sensorineural hearing loss and variable features of Wolfram syndrome. These features may include diabetes mellitus, psychiatric illness and optic atrophy.
LessGene Information
| Gene | Protein | OMIM# | Locus |
| WFS1 | WFS1 Protein | 606201 | 4p16.1 |
Testing Strategy
WFS1 gene sequencing is appropriate for individuals with isolated low frequency hearing loss and a dominant family history, features of Wolfram syndrome or features of Wolfram-like disease. Testing affected individuals is the most informative strategy in identifying a genetic cause of these conditions.
Methodology
This test is performed by Sanger sequencing of the coding regions and splice sites of the WFS1 gene. This test does not detect large deletions or variants in non-coding regions that could affect gene expression.
Analytical and Clinical Sensitivity
This test is greater than 99.9% accurate in detecting variants in the sequence analyzed.
