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Journal of Inherited Metabolic Disease

, Volume 29, Issue 4, pp 591–591 | Cite as

Homozygosity for the double D409H+H255Q allele in type II Gaucher disease

  • Helen Michelakakis
  • Marina Moraitou
  • Evagelia Dimitriou
  • Raul Santamaria
  • Gessami Sanchez
  • Laura Gort
  • Amparo Chabas
  • Daniel Grinberg
  • Maria Dassopoulou
  • Spyros Fotopoulos
  • Lluisa Vilageliu
Short Report

Summary

Homozygosity for D409H has been associated with a unique type III subtype of the disease with a phenotype dominated by severe cardiovascular involvement, whereas neurological findings, if present, are restricted to oculomotor apraxia and features such as visceromegaly are either minimal or absent. Using PCR amplification followed by restriction enzyme analysis, 3 patients (1 Greek, 2 Albanians) were IDentified with the D409H/D409H genotype. All shared a very severe early-onset neurological phenotype that classified them as type II. Amplification and sequencing of the full coding region of the GBA gene revealed that all three patients were homozygous not only for D409H but also for H255Q. Both mutations were present on the same allele, as shown by analysis of the parental DNA. The double D409H+H255Q allele was found in heterozygosity in Greek, Bulgarian and Argentinian patients but was not IDentified in any Spanish patients carrying the D409H mutation.

Keywords

Gauche Disease Apraxia Acute Pulmonary Embolism Spanish Patient D409H Mutation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Supplementary material

10545_2006_ESM_316.pdf (189 kb)
Homozygosity for the double D409H+H255Q allele in type II Gaucher disease

Copyright information

© SSIEM and Springer 2006

Authors and Affiliations

  • Helen Michelakakis
    • 1
  • Marina Moraitou
    • 1
  • Evagelia Dimitriou
    • 1
  • Raul Santamaria
    • 2
  • Gessami Sanchez
    • 2
  • Laura Gort
    • 3
  • Amparo Chabas
    • 3
  • Daniel Grinberg
    • 2
  • Maria Dassopoulou
    • 4
  • Spyros Fotopoulos
    • 3
  • Lluisa Vilageliu
    • 2
  1. 1.Department of Enzymology and Cellular FunctionInstitute of Child HealthAthensGreece
  2. 2.Department de Genetica, Facultat de BiologiaUniversitat de BarcelonaSpain
  3. 3.Institut de Bioquimica ClinicaCorporacio Sanitaria ClinicBarcelonaSpain
  4. 4.NICU, “Alexandra” Hospital Athens, and “Ag. Sophia” Children's HospitalAthensGreece

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