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

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. To study the genotype-phenotype relationship...

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2015-06, Vol.10 (1), p.70-70, Article 70
Main Authors: Borgwardt, Line, Stensland, Hilde Monica Frostad Riise, Olsen, Klaus Juul, Wibrand, Flemming, Klenow, Helle Bagterp, Beck, Michael, Amraoui, Yasmina, Arash, Laila, Fogh, Jens, Nilssen, Øivind, Dali, Christine I, Lund, Allan Meldgaard
Format: Article
Language:English
Subjects:
Adolescent
Adult
alpha-Mannosidosis - enzymology
alpha-Mannosidosis - genetics
alpha-Mannosidosis - metabolism
alpha-Mannosidosis - pathology
Child
Child, Preschool
Female
Genetic Association Studies
Genotype
Humans
Male
Mannosidases - genetics
Mannosidases - metabolism
Oligosaccharides - cerebrospinal fluid
Phenotype
Young Adult
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Summary: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. 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 phenotype in alpha-mannosidosis. Statistical analyses were performed using the SPSS software. Analyses of covariance were performed to describe the genotype-phenotype correlations. The phenotype parameters were modelled by the mutation group and age as a covariate. P values of
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-015-0286-x