Diagenode

The Identification of a Novel Fucosidosis-Associated Mutation: A Case of a5-Year-Old Polish Girl with Two Additional Rare Chromosomal Aberrations andAffected DNA Methylation Patterns.


Domin A. et al.

Fucosidosis is a rare neurodegenerative autosomal recessive disorder, which manifests as progressive neurological and psychomotor deterioration, growth retardation, skin and skeletal abnormalities, intellectual disability and coarsening of facial features. It is caused by biallelic mutations in encoding the α-L-fucosidase enzyme, which in turn is responsible for degradation of fucose-containing glycoproteins and glycolipids. mutations lead to severe reduction or even loss of α-L-fucosidase enzyme activity. This results in incomplete breakdown of fucose-containing compounds leading to their deposition in different tissues and, consequently, disease progression. To date, 36 pathogenic variants in associated with fucosidosis have been documented. Among these are three splice site variants. Here, we report a novel fucosidosis-related 9-base-pair deletion (NG_013346.1:g.10233_10241delACAGGTAAG) affecting the exon 3/intron 3 junction within a sequence. This novel pathogenic variant was identified in a five-year-old Polish girl with a well-defined pattern of fucosidosis symptoms. Since it is postulated that other genetic, nongenetic or environmental factors can also contribute to fucosidosis pathogenesis, we performed further analysis and found two rare de novo chromosomal aberrations in the girl's genome involving a 15q11.1-11.2 microdeletion and an Xq22.2 gain. These abnormalities were associated with genome-wide changes in DNA methylation status in the epigenome of blood cells.

Tags
Premium RRBS Kit

Share this article

Published
January, 2021

Source

Products used in this publication

  • Methylation kit icon
    C02030032
    Premium RRBS kit (24 rxns) - replaced by Premiu...
  • Methylation kit icon
    C02030033
    Premium RRBS kit (96 rxns) - replaced by Premiu...
  • Methylation kit icon
    C02030036
    Premium RRBS kit V2 RRBS for low DNA amounts ...
  • Methylation kit icon
    C02030037
    Premium RRBS kit V2 x96 RRBS for low DNA amoun...

Events

  • 64th ASH Annual Meeting and Exposition 2022
    New Orleans, Louisiana, USA
    Dec 10-Dec 13, 2022
 See all events

News

 See all news


The European Regional Development Fund and Wallonia are investing in your future.

Extension of industrial buildings and new laboratories.


       Site map   |   Contact us   |   Conditions of sales   |   Conditions of purchase   |   Privacy policy   |   Diagenode Diagnostics