Neuronal ceroid lipofuscinosis (NCL) is a hereditary lysosomal storage disease with progressive brain neurodegeneration. Mutations in ceroid lipofuscinosis neuronal protein 5 (CLN5) cause CLN5 disease, a severe condition characterized by seizures, visual failure, motor decline, and progressive cognitive deterioration.
Our 2020 study aimed to identify causative gene variants in Pakistani consanguineous families diagnosed with NCL. After a thorough clinical and neuroradiological characterization, whole exome sequencing (WES) was performed in 3 patients from 2 unrelated families. Segregation analysis was subsequently performed through Sanger sequencing. WES led to the identification of the 2 novel homozygous variants c.925_926del, (p.Leu309AlafsTer4) and c.477 T > C, (p.Cys159Arg). In this study, we reported two novel CLN5 cases in the Punjab region of Pakistan. Our observations will hopefully help clinicians observe and compare common and unique clinical features of NCL patients, further improving our current understanding of NCL.
CLN5