Cohen syndrome with novel VPS13B variants presenting as early-onset diabetes: a case report

Key Points

• Early-onset diabetes was identified as a significant issue in the patient with Cohen syndrome.
• The novel VPS13B genetic variants propose a link to metabolic dysfunction, emphasizing the importance of genetics.
• Genetic testing revealed unique variations of VPS13B, correlating with the metabolic disorder present.
• Findings may highlight a new understanding of the link between genetic factors and diabetes onset.