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Maternal germline mosaicism in Fabry disease.

Luigi Pianese1, Antonio Fortunato2, Serena Silvestri2

  • 1Clinical Pathology Unit, Mazzoni Hospital, Via degli iris, 63100, Ascoli Piceno, Italy. luigi.pianese@sanita.marche.it.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|February 15, 2019
PubMed
Summary
This summary is machine-generated.

This study reports the first case of maternal germline mosaicism in Fabry disease (FD). A mother passed the GLA gene mutation to her children, but it wasn't detected in her own cells.

Keywords:
Fabry diseaseGLAGermline mosaicismMutation

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Area of Science:

  • Genetics
  • Biochemistry
  • Rare Diseases

Background:

  • Fabry disease (FD) is an X-linked genetic disorder caused by mutations in the GLA gene, resulting in deficient alpha-galactosidase A enzyme activity.
  • This deficiency leads to the accumulation of globotriaosylceramide in lysosomes, causing multi-systemic complications.

Purpose of the Study:

  • To investigate the genetic transmission of a specific GLA gene mutation (p.G138E) within a family.
  • To identify the source of the mutation in affected siblings and explore potential mechanisms of inheritance.

Main Methods:

  • Genotype analysis using intragenic GLA markers.
  • Testing for the GLA gene mutation in peripheral blood, buccal cells, and urinary sediment cells of family members.
  • Haplotype analysis of the maternal chromosome X.

Main Results:

  • Two siblings (son and daughter) presented with the same p.G138E mutation in the GLA gene.
  • The mutation was not detected in the mother's peripheral blood, buccal cells, or urinary sediment cells.
  • An unaffected son carried the same disease-associated maternal chromosome X haplotype as his affected siblings.
  • This pattern suggests maternal germline mosaicism for the GLA mutation.

Conclusions:

  • This case represents the first documented instance of maternal germline mosaicism in Fabry disease.
  • Germline mosaicism can lead to affected offspring inheriting a mutation not detectable in the parent's somatic cells.
  • Further research is needed to understand the prevalence and implications of germline mosaicism in FD inheritance patterns.