{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:51Z","timestamp":1753869711856,"version":"3.41.2"},"reference-count":28,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,7,31]],"date-time":"2021-07-31T00:00:00Z","timestamp":1627689600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81070269","81571388"],"award-info":[{"award-number":["81070269","81571388"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Cathepsin D is a lysosomal aspartic protease encoded by the <jats:italic>CTSD<\/jats:italic> gene. It plays important roles in many biological processes. Biallelic loss\u2010of\u2010function mutation of <jats:italic>CTSD<\/jats:italic> 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\u2010causing mutations have been reported worldwide.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Exome sequencing was performed on a 15\u2010year\u2010old girl with pervasive brain developmental disorder. The effects of the identified variants were investigated through multiple functional experiments.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>There were no differences in mRNA and protein expression, intracellular localization, maturation, and proteolytic activity between the cells with the mutant <jats:italic>CTSD<\/jats:italic> gene and those with the wild\u2010type <jats:italic>CTSD<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These results suggest that the c.863A&gt;G (p.Glu288Gly) homozygous variant is not a pathogenic variation, but a benign variant.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1777","type":"journal-article","created":{"date-parts":[[2021,7,31]],"date-time":"2021-07-31T13:24:05Z","timestamp":1627737845000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The c.863A&gt;G (p.Glu288Gly) variant of the <i>CTSD<\/i> gene is not associated with CLN10 disease"],"prefix":"10.1002","volume":"9","author":[{"given":"Juan","family":"Yang","sequence":"first","affiliation":[{"name":"Chongqing Key Laboratory of Translational Medical Research in Cognitive Development and Learning and Memory Disorders National Clinical Research Center for Child Health and Disorders Ministry of Education Key Laboratory of Child Development and Disorders Children\u2019s Hospital of Chongqing Medical University Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoting","family":"Ding","sequence":"additional","affiliation":[{"name":"Chongqing Key Laboratory of Translational Medical Research in Cognitive Development and Learning and Memory Disorders National Clinical Research Center for Child Health and Disorders Ministry of Education Key Laboratory of Child Development and Disorders Children\u2019s Hospital of Chongqing Medical University Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shasha","family":"Meng","sequence":"additional","affiliation":[{"name":"Chongqing Key Laboratory of Translational Medical Research in Cognitive Development and Learning and Memory Disorders National Clinical Research Center for Child Health and Disorders Ministry of Education Key Laboratory of Child Development and Disorders Children\u2019s Hospital of Chongqing Medical University Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinhua","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Radiology of Children\u2019s Hospital of Chongqing Medical University Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7111-0982","authenticated-orcid":false,"given":"Weihui","family":"Zhou","sequence":"additional","affiliation":[{"name":"Chongqing Key Laboratory of Translational Medical Research in Cognitive 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