biostudies-literatureYang JNational Natural Science Foundation of Chinae1777https://www.ebi.ac.uk/biostudies/studies/S-EPMC8580076biostudies-literatureUnknown9(10)<h4>Background</h4>Cathepsin D is a lysosomal aspartic protease encoded by the CTSD gene. It plays important roles in many biological processes. Biallelic loss-of-function mutation of CTSD is considered a cause of CLN10 disease. CLN10 is a rare autosomal recessive disorder that is one of 14 types of neuronal ceroid lipofuscinoses (NCLs). To date, only a few cases of CLN10 and 12 disease-causing mutations have been reported worldwide.<h4>Methods</h4>Exome sequencing was performed on a 15-year-old girl with pervasive brain developmental disorder. The effects of the identified variants were investigated through multiple functional experiments.<h4>Results</h4>There were no differences in mRNA and protein expression, intracellular localization, maturation, and proteolytic activity between the cMolecular genetics & genomic medicineThe c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease.PMC85800768107026981571388Yang JDing XMeng SCai JZhou WfalseThe c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease.<h4>Background</h4>Cathepsin D is a lysosomal aspartic protease encoded by the CTSD gene. It plays important roles in many biological processes. Biallelic loss-of-function mutation of CTSD is considered a cause of CLN10 disease. CLN10 is a rare autosomal recessive disorder that is one of 14 types of neuronal ceroid lipofuscinoses (NCLs). To date, only a few cases of CLN10 and 12 disease-causing mutations have been reported worldwide.<h4>Methods</h4>Exome sequencing was performed on a 15-year-old girl with pervasive brain developmental disorder. The effects of the identified variants were investigated through multiple functional experiments.<h4>Results</h4>There were no differences in mRNA and protein expression, intracellular localization, maturation, and proteolytic activity between the c2021-01-01T00:00:00Z2021 Oct2025-05-29T18:53:41.843Z2025-05-29T18:53:41.843ZS-EPMC85800763433174710.1002/mgg3.1777