Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.

ABSTRACT:

Background

Alpha-mannosidosis is caused by mutations in MAN2B1, leading to loss of lysosomal alpha-mannosidase activity. Symptoms include intellectual disabilities, hearing impairment, motor function disturbances, facial coarsening and musculoskeletal abnormalities.

Methods

To study the genotype-phenotype relationship for alpha-mannosidosis 66 patients were included. Based on the predicted effect of the mutations and the subcellular localisation of mutant MAN2B1 in cultured cells, the patients were divided into three subgroups. Clinical and biochemical data were collected. Correlation analyses between each of the three subgroups of genotype/subcellular localisation and the clinical and biochemical data were done to investigate the potential relationship between genotype and

SUBMITTER: Borgwardt L 

PROVIDER: S-EPMC4465300 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature