A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis.

Abstract

Neuronal ceroid-lipofuscinosis (NCL) is a heterogeneous and rare lysosomal storage disorder characterized by the accumulation of autofluorescent materials—ceroid and lipofuscin—in the cytoplasm.1 It is manifested as a progressive destruction of neuronal cells resulting in brain atrophy, loss of vision, and other neurodegenerative phenotypes.1 Over 446 mutations in different genes have been cataloged in the NCL mutation database ([ucl.ac.uk/ncl/mutation][1]). The overlapping phenotypes and involvement of multiple genes indicate the difficulty in the accurate diagnosis of NCLs.2 The genetic characterization using whole exome sequencing approach can accurately diagnose NCLs.3,4 We report a phenotypically inconclusive case of a rare occurrence of NCL in siblings and identified a mutation in CTSD using whole exome sequencing. The authors acknowledge Ms. Rowmika Ravi for helping with manuscript preparation and the GUaRDIAN consortium for the scientific support. The authors also acknowledge Dr. Najeeba Riyaz for the skin biopsy and Dr. Riyaz Arakkal and Dr. Rajeevan for the clinical workup of the family. [1]: http://www.ucl.ac.uk/ncl/mutation