Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Circadian variations in plasma concentrations of cholecystokinin and gastrin in man

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Validation of suPAR turbidimetric assay on Cobas® (c502 and c702) and comparison to suPAR ELISA

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Mania triggered by levodopa treatment in a patient with frontotemporal dementia caused by A C9orf72 repeat expansion: A case report

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Recurrent infective endocarditis versus first-time infective endocarditis after heart valve surgery

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Hashimoto's thyroiditis as a risk factor for thyroid cancer

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

Fabry disease is an X- linked inherited lysosomal storage disease caused by mutations in the GLA gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A). The possible pathological significance of the D313Y variant in the GLA gene has not been verified and it may be a Fabry variant. Our aim was to elucidate whether the presence of the D313Y variant influenced the α-Gal A activity or resulted in Fabry symptoms or Fabry organ involvement. In two Danish families the presence of the D313Y variant did not result in reduced α-Gal A activity or clinical Fabry manifestations in males, and the presence in Fabry females did not significantly enhance the phenotype of a known causative mutation in the GLA gene (G271S). Our findings indicate that the D313Y variant is not causative to nor enhancing Fabry disease phenotype. The D313Y variant in the GLA gene was not disease causative in 2 Danish families. Investigating male family members were crucial in excluding the Fabry phenotype, and thus very important for proper genetic counceling of all family members, as well as overdiagnosing a devastating genetic disease.

Original languageEnglish
JournalScandinavian Journal of Clinical and Laboratory Investigation
Volume77
Issue number8
Pages (from-to)617-621
Number of pages5
ISSN0036-5513
DOIs
Publication statusPublished - Dec 2017

    Research areas

  • Journal Article

ID: 52175839