Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-12

AUTHORS

Yuyu Feng, Yonglan Huang, Xiaoyuan Zhao, Huiying Sheng, Yi Feng, Wen Zhang, Li Liu

ABSTRACT

GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by the deficiency of β-galactosidase activity, precisely due to mutations in the GLB1 gene. To explore the clinical and molecular characteristics of GM1 gangliosidosis patients from China, GLB1 gene were analyzed in 11 probands with GM1 gangliosidosis by exploiting direct Sanger-sequencing. Among them, five patients were classified as the infantile type and the remaining six as the late-infantile or juvenile type. In these probands, eight novel mutations p.Y50N, p.Y237C, p.S267F, p.G453R, p.K578 N, c.618delC, c.475_478delGACA and c.1979_1980insG have been identified. Among them, three novel missense mutations p.Y50N, p.S267F and p.G453R were transiently transfected in COS-7 cells by plasmid system for functional verification. In vitro GLB1 activities carrying the aforesaid missense mutants p.Y50N, p.S267F and p.G453R were 0.11%, 0 and 0.55% of wild-type, respectively. Mutation c.495_497delTCT and p.S149F accounted for 22.7 and 13.6% of the mutant alleles, respectively. Our results expand the spectrum of GLB1 gene, provide new insights into the clinical and molecular characteristics of GM1 gangliosidosis in China. More... »

PAGES

2051-2057

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s11011-018-0315-2

DOI

http://dx.doi.org/10.1007/s11011-018-0315-2

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1107303420

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30267299


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