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[Partial research progress of GGCX pathogenic variation associated phenotypes].

Guomin Shen1, Hongli Liu, Yan Shen

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Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
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Genetic variations in gamma-glutamyl carboxylase (GGCX) cause diverse health issues, from blood clotting disorders to skin abnormalities like pseudoxanthoma elasticum-like syndrome, impacting multiple bodily functions.

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Area of Science:

  • Biochemistry and Molecular Biology
  • Genetics and Genomics
  • Clinical Medicine

Background:

  • Gamma-glutamyl carboxylase (GGCX), or vitamin K-dependent glutamyl carboxylase, is crucial for modifying vitamin K-dependent proteins (VKDPs).
  • GGCX plays roles in vital processes such as blood coagulation, bone metabolism, vascular calcification, and cell proliferation.
  • Pathogenic GGCX variations were initially linked to vitamin K-dependent coagulation factor deficiency 1 (VKCFD1).

Purpose of the Study:

  • To review and consolidate the spectrum of clinical phenotypes associated with pathogenic GGCX variations.
  • To enhance the recognition and understanding of GGCX-related genetic disorders.
  • To aid in the diagnosis and treatment strategies for GGCX-associated diseases.

Main Methods:

  • Literature review of studies reporting GGCX pathogenic variations and their associated phenotypes.
  • Analysis of clinical data to identify common and rare manifestations.
  • Synthesis of findings to provide a comprehensive overview of GGCX-related diseases.

Main Results:

  • GGCX gene variations lead to a wide range of clinical phenotypes beyond coagulation defects.
  • Dermatological abnormalities, particularly pseudoxanthoma elasticum-like syndrome, are the most frequent phenotype.
  • Other observed abnormalities include ophthalmological, skeletal, and cardiac issues.

Conclusions:

  • Pathogenic GGCX variations are associated with a broader spectrum of diseases than previously recognized.
  • The diverse phenotypes underscore the multifaceted role of GGCX in human health.
  • Increased awareness of GGCX-related phenotypes is essential for timely diagnosis and effective management.