Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis.

ABSTRACT: Neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive inherited neurodegenerative disorders mainly affecting children, and at least 13 causative genes (CLN1 to CLN8 and CLN10 to CLN14) have been identified. Here, we reported a novel homozygous missense mutation (c.434G > C, p.Arg145Pro) identified in CLN5 gene via whole exome sequencing in a 5-year-old girl. The patient first presented paroxysmal epilepsy associated with vomiting, followed by progressive regression in walking, vision, intelligence and speaking. Combining the molecular and clinical analysis, the diagnosis of NCL could be made, although the missense mutation (c.434G > C, p.Arg145Pro) in CLN5 was evaluated to be a variant of uncertain significance according to American Col

SUBMITTER: Luo S 

PROVIDER: S-EPMC7492598 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature