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

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Alpha-mannosidosis genotype influences patient outcomes. Mutations affecting lysosomal localization of the MAN2B1 protein correlate with cognitive function, motor skills, and oligosaccharide storage in cerebrospinal fluid.

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Area of Science:

  • Genetics
  • Biochemistry
  • Lysosomal Storage Diseases

Background:

  • Alpha-mannosidosis results from MAN2B1 gene mutations, causing reduced alpha-mannosidase activity.
  • Clinical manifestations include intellectual disability, hearing loss, motor deficits, and skeletal abnormalities.

Purpose of the Study:

  • To investigate the genotype-phenotype relationship in alpha-mannosidosis.
  • To correlate MAN2B1 mutation effects and subcellular localization with clinical and biochemical data.

Main Methods:

  • Genotyping and subcellular localization analysis of MAN2B1 in 66 patients.
  • Collection of clinical and biochemical data.
  • Statistical correlation analyses using SPSS, including analyses of covariance.

Main Results:

  • Patients with MAN2B1 variants allowing lysosomal localization showed improved cognitive scores (Leiter-R), better motor function (BOT-2), higher FVC%, and lower CSF-oligosaccharides.
  • Significant correlations were observed between genotype subgroups and clinical/biochemical parameters.

Conclusions:

  • MAN2B1 genotype significantly impacts cognitive function, motor skills (coordination, balance), FVC%, and CSF oligosaccharide levels.
  • The subcellular localization of the mutant MAN2B1 protein is a key determinant of the genotype-phenotype correlation in alpha-mannosidosis.