Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analyses | Synapse
March 3, 2026
Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analyses
Key Points
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.