Most patients with this progressive disorder die prematurely with widespread atrophic changes throughout the brain. Insulin-requiring diabetes mellitus occurs with mean age of onset at 6 years. The pathogenesis of Wolfram syndrome is unknown. Comparison of the cDNA sequence of WFS1 with those in public databases revealed no related genes. This novel cDNA sequence codes for a polypeptide of 890 amino acid residues.
Hydrophobicity analysis predicts the gene product to be a membrane protein.