Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene
ObjectiveTo describe the clinical presentation and novel mutation in the ganglioside-beta-galactosidase gene (GLB1) gene in a Chinese family with GM1 gangliosidosis.MethodsWe collected clinical data from a Chinese family with GM1 gangliosidosis, and performed whole exon sequencing (WES) of the proba...
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| Language: | English |
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1507098/full |
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| author | Biao Zhang Xiao-li Huang Xin-xin Lu Heng-bin Huang Yan-an Wu |
| author_facet | Biao Zhang Xiao-li Huang Xin-xin Lu Heng-bin Huang Yan-an Wu |
| author_sort | Biao Zhang |
| collection | DOAJ |
| description | ObjectiveTo describe the clinical presentation and novel mutation in the ganglioside-beta-galactosidase gene (GLB1) gene in a Chinese family with GM1 gangliosidosis.MethodsWe collected clinical data from a Chinese family with GM1 gangliosidosis, and performed whole exon sequencing (WES) of the proband and his parents. The pathogenic sites of candidate genes were targeted, and the detected exon mutations were verified by Sanger sequencing. Enzyme activity of β-galactosidase was detected in 293T cells transiently transfected with plasmids encoding the detected mutations.ResultsTwo siblings in this family presented with neurological degeneration, and were classified as the late-infantile type. Two siblings and their parents underwent WES of the peripheral blood. A reported missense mutation c.446C>T and a novel mutation c.1058_1059delinsAA in GLB1 gene inherited from the mother and father respectively were identified. The mutant c.1058_1059delinsAA retained β-galactosidase activity at 0% of wild-type GLB1.ConclusionThis study identified a novel mutation of the GLB1 gene in a Chinese family with GM1 gangliosidosis and provided new insights into the molecular characteristics and genetic counseling of GM1 gangliosidosis. |
| format | Article |
| id | doaj-art-27a72058f21b4414b0ad969b5342e819 |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-27a72058f21b4414b0ad969b5342e8192025-01-20T07:20:20ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-01-011310.3389/fped.2025.15070981507098Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 geneBiao Zhang0Xiao-li Huang1Xin-xin Lu2Heng-bin Huang3Yan-an Wu4Department of Clinical Laboratory, Shengli Clinical Medical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, ChinaDepartment of Clinical Laboratory, Shengli Clinical Medical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, ChinaCenter of Clinical Laboratory, School of Medicine, Zhongshan Hospital of Xiamen University, Xiamen University, Xiamen, ChinaDepartment of Clinical Laboratory, Shengli Clinical Medical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, ChinaDepartment of Clinical Laboratory, Shengli Clinical Medical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, ChinaObjectiveTo describe the clinical presentation and novel mutation in the ganglioside-beta-galactosidase gene (GLB1) gene in a Chinese family with GM1 gangliosidosis.MethodsWe collected clinical data from a Chinese family with GM1 gangliosidosis, and performed whole exon sequencing (WES) of the proband and his parents. The pathogenic sites of candidate genes were targeted, and the detected exon mutations were verified by Sanger sequencing. Enzyme activity of β-galactosidase was detected in 293T cells transiently transfected with plasmids encoding the detected mutations.ResultsTwo siblings in this family presented with neurological degeneration, and were classified as the late-infantile type. Two siblings and their parents underwent WES of the peripheral blood. A reported missense mutation c.446C>T and a novel mutation c.1058_1059delinsAA in GLB1 gene inherited from the mother and father respectively were identified. The mutant c.1058_1059delinsAA retained β-galactosidase activity at 0% of wild-type GLB1.ConclusionThis study identified a novel mutation of the GLB1 gene in a Chinese family with GM1 gangliosidosis and provided new insights into the molecular characteristics and genetic counseling of GM1 gangliosidosis.https://www.frontiersin.org/articles/10.3389/fped.2025.1507098/fullGM1 gangliosidosisGLB1 geneβ-galactosidaseheterozygous mutationwhole exon sequencing |
| spellingShingle | Biao Zhang Xiao-li Huang Xin-xin Lu Heng-bin Huang Yan-an Wu Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene Frontiers in Pediatrics GM1 gangliosidosis GLB1 gene β-galactosidase heterozygous mutation whole exon sequencing |
| title | Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene |
| title_full | Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene |
| title_fullStr | Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene |
| title_full_unstemmed | Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene |
| title_short | Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene |
| title_sort | clinical and genetic analysis of a chinese family with gm1 gangliosidosis caused by a novel mutation in glb1 gene |
| topic | GM1 gangliosidosis GLB1 gene β-galactosidase heterozygous mutation whole exon sequencing |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1507098/full |
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