1) Whole exome sequencing of a patient of neuronal ceroid lipofuscinosis type 5 (CLN5); 2)Whole exome sequencing of the proband's mother; 3)Whole exome sequencing of the proband's father.

This is the first report of whole gene deletion in combination with a novel pathogenic sequence variant in a CLN5 patient. The two mutations detected with whole exome sequencing simultaneously proved the advantage of the sequencing technology for genetic diagnostics.