What is “allele”? An allele is an alternative form of a gene that is located at a specific position on a specific chromosome. We have two alleles for each trait. Wolfram syndrome is an autosomal recessive disease. This means most patients have two pathogenic alleles. We have recently found patients who only have one pathogenic allele. This allele is called “dominant.” I feel that this allele may be a key to understand the mechanisms of Wolfram syndrome.
Thank you for reading this blog. I understand that this one is a little difficult for lay people. I just wanted to share my thoughts. I welcome any feedback.