Looking for VUS to Confirm Dominant Wolfram-like Syndrome Instead of Recessive Wolfram Syndrome

Looking for VUS to Confirm Dominant Wolfram-like Syndrome Instead of Recessive Wolfram Syndrome

Looking for the pthogenicity of mutations of WFS1 gene for patients with mutation of the two alleles but a dominant phenotype

Looking for the pthogenicity of mutations of WFS1 gene for patients with mutation of the two alleles but a dominant phenotype, especilly on macular OCT, in order to confirm that one of these mutations is a a non pathogenic VUS.

Inclusion Criteria:

Having mutations of both alleles of WFS1 gene Considered as Wolfram syndrome in our database -

Exclusion Criteria:

do not have genetic testing aviable

-