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Article

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

American journal of medical genetics. Part A - 1 Oct 2026

Zhao Teresa, Fennell Andrew P, Sharma Tanavi, Bell Katrina M, Dunstan Monique, Lunke Sebastian, McGrath Meagan J, McLean Catriona, Thorburn David R, Stroud David A, Christodoulou John

Abstract excerpt

TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities. Multi-omics analysis including genomics, transcriptomics, and proteomics, together...

Read the complete abstract on PubMed

Topics

Humans
Female
Multiomics
Genomics
Intellectual Disability
Adolescent

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Exome Sequencing

Proteomics

Phenotype

Mutation

Autophagy-Related Proteins

Source

Identifiers

PMID: 42109093
DOI: 10.1002/ajmg.a.70191

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 2026.

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