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June 1, 2005Journal of Medical GeneticsOpen Access

Divergent phenotypes in Gaucher disease implicate the role of modifiers

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Authors

ÖGÖzlem Göker-AlpanLysosomal and Rare Disorders Research and Treatment Center

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Overview

Clinical association study reveals marked phenotypic divergence in children homozygous for the Gaucher L444P mutation, implicating genetic modifiers in disease severity.

Key Points

  • Investigate the clinical variability and potential genetic or epigenetic modifiers in patients carrying identical homozygous L444P mutations in Gaucher disease.
  • Conducted a clinical association study in 32 children homozygous for the L444P point mutation.
  • Confirmed genotypes and ruled out recombinant alleles via direct DNA sequencing and Southern blot analyses.
  • Measured residual glucocerebrosidase activity in lymphoblast and fibroblast cell lines derived from patients.
  • Residual glucocerebrosidase activity varied widely across cell lines and did not correlate with observed clinical disease severity.
  • The average age at diagnosis was 15 months, with slowed saccadic eye movements being the most prevalent clinical feature.
  • Enzyme replacement therapy reduced systemic morbidity and mortality relative to historical splenectomies, though developmental and language delays emerged during treatment.

Cite This Study

Özlem Göker-Alpan (2005) studied this question.

synapsesocial.com/papers/6a836bbb0c529eac175f412chttps://doi.org/10.1136/jmg.2004.028019
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Also Consider

Synapse has enriched one closely related paper. Consider it for comparative context:

  1. 1Gaucher Disease: Gene Frequencies and Genotype/Phenotype Correlations1997 · 163 citations