Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics.
Teresa Zhao, Andrew P Fennell, Tanavi Sharma et al.
✦ AI-curated · Sources linked
Case in brief
A teenage female presented with syndromic intellectual disability and neuromuscular abnormalities. Multi-omics analysis, including genomics, transcriptomics, and proteomics, was employed alongside muscle biopsy. Trio exome sequencing revealed two heterozygous variants in the TECPR2 gene, initially classified as variants of uncertain significance. Long-read sequencing confirmed the variants were in trans, and functional studies established their pathogenicity, leading to a definitive diagnosis.
Diagnostic / clinical pearl
This case highlights the importance of multi-omics analysis in resolving complex genetic disorders, particularly when traditional methods yield uncertain results.
Why it matters
Utilizing a multi-omics approach can enhance diagnostic accuracy in cases of hereditary sensory and autonomic neuropathies, potentially guiding future management strategies.