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Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics

Teresa Zhao1,2,3, Andrew P Fennell4,5, Tanavi Sharma6

  • 1Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

American Journal of Medical Genetics. Part A
|May 11, 2026
PubMed
Summary

This study identifies two TECPR2 gene variants in a patient with intellectual disability and neuromuscular issues. Multi-omics analysis confirmed these variants cause a rare neuropathy, highlighting the power of integrated diagnostic approaches.

Keywords:
TECPR2functional genomicsmulti‐omicsrare diseaseundiagnosed disease

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