关键词: 神经元蜡样质脂褐质沉积病, TPP1 基因, 全外显子组测序技术, 基因突变

Abstract: To clinically diagnose and genetically analyze one case of late infantile neuronal ceroid lipofuscinoses (LINCL).  The patient had carried compound heterozygous mutations of gene TPP1，namely c.1424C>T (p.Ser475Leu) and c.962A>G (p.His321Arg),  which were inherited from his father and mother，respectively. The analysis of mutation pathogenicity showed that the mutations were both deleterious and pathogenic,  and the homologous comparison of protein sequences indicated that the homologous region was highly conservative. The LINCL may be caused by TPP1 compound heterozygous mutations. The site mutation of c.962A>G (p. His321arg) has not been reported. The discovery of the new mutated gene expanded the mutated spectrum of the gene and provided clues and directions for elucidating the genetic mechanism of LINCL. WES can be used as a diagnostic method to detect LINCL,  and it can provide a basis for the diagnosis of diseases with complex clinical phenotypes.

Key words: neuronal ceroidlipofuscinoses, TPP1 gene, whole exome sequencing, gene mutation