A novel CLN5 mutation in Turkish patient with variant late-onset neuronal ceroid lipofuscinosis and recurrent fractures that causes severe morbidity. Issue 6 (2nd November 2021)

• Record Type: Journal Article
• Authors: Duz, Mehmet Bugrahan
• Is Part Of: Neurocase. Volume 27:Issue 6(2021)
• Page Start: 437
• Page End: 440
• Publication Date: 2021-11-02
• Subjects: CLN5 -- neuronal ceroid lipofuscinosis -- novel mutation -- morbidity -- fracture -- Turkish; Neurology -- Periodicals; Neuropsychology -- Case Report; Mental Disorders -- Case Report; Nervous System Diseases -- Case Report; 616.8
• DOI: 10.1080/13554794.2021.1993264
• Languages: English
• ISSNs: 1355-4794

Abstract

ABSTRACT: Neuronal ceroid lipofuscinosis (NCL) is characterized by ataxia, epilepsy, mental and motor deterioration, and visual loss. The phenotype of patients is highly heterogeneous. We report a patient with late-infantile-onset psychomotor retardation, visual loss, seizure, movement disorder, and recurrent bone fractures. Clinical exome sequencing revealed a novel homozygous c.1113_1116del, p.Y371fs mutation in CLN5. No variant was detected associated with simple bone cyst. While NCL disease is difficult disease in itself, recurrent fractures significantly increased morbidity. This case report contributes to genotypic spectrum of CLN5 and emphasizes clinical importance of Turkish patients with CLN5 mutations, and non-NCL factors/diseases can adversely affect morbidity.