Maternal germline mosaicism in Fabry disease

  • Luigi PianeseEmail author
  • Antonio Fortunato
  • Serena Silvestri
  • Francesco G. Solano
  • Alberto Burlina
  • Alessandro P. Burlina
  • Michele Ragno
Brief Communication


Fabry disease (FD) is an X-linked monogenic disorder caused by mutations in the GLA gene which leads to a deficiency of the functionally active lysosomal α-galactosidase A enzyme. Here, we report on a family of five members: unaffected parents, one unaffected son, and another son and daughter both carrying the same mutation (p.G138E) in the GLA gene. Genotype analysis using intragenic GLA markers confirmed the maternal origin of the mutation. The affected son and daughter carried the same mutation; however, it was not detected in the peripheral blood, buccal cells, and urinary sediment cells of their mother. Moreover, the unaffected son without the alteration in the GLA gene carried the same maternal chromosome X (disease-associated) haplotype. To the best of our knowledge, this study represents the first case of maternal germline mosaicism in FD.


Fabry disease Mutation Germline mosaicism GLA 



We are grateful to the patients and their family for their kind collaboration.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflicts of interest.


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Copyright information

© Fondazione Società Italiana di Neurologia 2019

Authors and Affiliations

  1. 1.Clinical Pathology UnitMazzoni HospitalAscoli PicenoItaly
  2. 2.Division of NefrologyMadonna del Soccorso HospitalSan Benedetto del TrontoItaly
  3. 3.Division of Inherited Metabolic DiseasesUniversity Hospital of PadovaPadovaItaly
  4. 4.Neurological UnitSt. Bassiano HospitalBassano del GrappaItaly
  5. 5.Division of NeurologyMadonna del Soccorso HospitalSan Benedetto del TrontoItaly

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