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February 8, 2026BMC Medical Genomics0 citationsOpen Access

Successful experience with high-risk and family screening for Fabry disease in Ninghai County, Zhejiang Province, Eastern China: genotype‒phenotype analysis of the GLA IVS4 + 919G > A variant

ZGZhuhui GeJMJianhua MaoZDZhangqiao Dai

Key Points

  • This research aims to explore the effectiveness of family and high-risk screening for Fabry disease, focusing on the GLA IVS4 + 919G > A variant.
  • Conducted screening among high-risk populations in Ninghai County
  • Analyzed genotype-phenotype correlations related to the GLA IVS4 + 919G > A variant
  • Focused on late-onset Fabry disease cases
  • Found high prevalence of the GLA IVS4 + 919G > A variant in late-onset cases
  • Identified diverse phenotypes linked to the variant
  • Demonstrated the effectiveness of screening for early diagnosis and intervention

Abstract

Screening high-risk populations and family screening is critical for early diagnosis and timely intervention in patients with Fabry disease. The GLA IVS4 + 919G > A variant is associated with diverse phenotypes of Fabry disease and is highly prevalent in late-onset cases in Ninghai County, Zhejiang Province, Eastern China.

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Cite This Study

Ge et al. (2026) studied this question.

synapsesocial.com/papers/698828010fc35cd7a88471c8https://doi.org/10.1186/s12920-026-02314-9
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