Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.

ABSTRACT:

Background

Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase (FUCA1) activity, leading to the accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex.

Methods

All exons and flanking intron regions of FUCA1 were screened by direct sequencing to identify mutations and polymorphisms in three unrelated families with fucosidosis. Bioinformatics tools were then used to predict the impacts of novel alterations on the structure and function of proteins. Furthermore, the identified mutations were localized onto a 3D structure model using the DeepView Swiss-PdbVi

SUBMITTER: Chkioua L 

PROVIDER: S-EPMC8383439 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature