The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease

Abstract Background 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 o...

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Autores principales:	Juan Yang, Xiaoting Ding, Shasha Meng, Jinhua Cai, Weihui Zhou
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	Cathepsin D CLN10 disease CTSD neuronal ceroid lipofuscinoses variation Genetics QH426-470
Acceso en línea:	https://doaj.org/article/89de8393ad3a4c568adce2a5b74a8c43
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spelling	oai:doaj.org-article:89de8393ad3a4c568adce2a5b74a8c432021-11-10T16:39:23ZThe c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease2324-926910.1002/mgg3.1777https://doaj.org/article/89de8393ad3a4c568adce2a5b74a8c432021-10-01T00:00:00Zhttps://doi.org/10.1002/mgg3.1777https://doaj.org/toc/2324-9269Abstract Background 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. Methods 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. Results There were no differences in mRNA and protein expression, intracellular localization, maturation, and proteolytic activity between the cells with the mutant CTSD gene and those with the wild‐type CTSD gene. Conclusion These results suggest that the c.863A>G (p.Glu288Gly) homozygous variant is not a pathogenic variation, but a benign variant.Juan YangXiaoting DingShasha MengJinhua CaiWeihui ZhouWileyarticleCathepsin DCLN10 diseaseCTSDneuronal ceroid lipofuscinosesvariationGeneticsQH426-470ENMolecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Cathepsin D CLN10 disease CTSD neuronal ceroid lipofuscinoses variation Genetics QH426-470
spellingShingle	Cathepsin D CLN10 disease CTSD neuronal ceroid lipofuscinoses variation Genetics QH426-470 Juan Yang Xiaoting Ding Shasha Meng Jinhua Cai Weihui Zhou The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease
description	Abstract Background 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. Methods 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. Results There were no differences in mRNA and protein expression, intracellular localization, maturation, and proteolytic activity between the cells with the mutant CTSD gene and those with the wild‐type CTSD gene. Conclusion These results suggest that the c.863A>G (p.Glu288Gly) homozygous variant is not a pathogenic variation, but a benign variant.
format	article
author	Juan Yang Xiaoting Ding Shasha Meng Jinhua Cai Weihui Zhou
author_facet	Juan Yang Xiaoting Ding Shasha Meng Jinhua Cai Weihui Zhou
author_sort	Juan Yang
title	The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease
title_short	The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease
title_full	The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease
title_fullStr	The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease
title_full_unstemmed	The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease
title_sort	c.863a>g (p.glu288gly) variant of the ctsd gene is not associated with cln10 disease
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/89de8393ad3a4c568adce2a5b74a8c43
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The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease

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