Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analyses

Puntos clave

• Neuronal ceroid lipofuscinosis is influenced by bi-allelic TPP1 variants found in patients.
• The cohort in this study consisted of 20 Iranian patients with notable clinical findings.
• Analysis of TPP1 genetic variants was performed using in silico methods to understand their impact.
• Findings suggest potential avenues for genetic counseling and therapeutic development.