Novel disease gene discovered

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

The discovery of novel genetic disorders increasingly relies on large databases and on collaborative international efforts. CENTOGENE is proud to be part of numerous pertinent research endeavors. A recently accomplished corresponding project identified mutations in the PIGB gene as underlying a novel neuro-metabolic syndrome. The resulting study, which involved groups from ten countries, appeared in the highly prestigious American Journal of Human Genetics.

Topics

Tagged as
  • Neuropathy
  • Intellectual disability
  • Epilepsy

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