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Article

Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.

Molecular genetics & genomic medicine - 1 May 2020

Wilton Katelynn M, Gunderson Lauren B, Hasadsri Linda, Wood Christopher P, Schimmenti Lisa A

Abstract excerpt

BACKGROUND: Intellectual disability is a complex multi-faceted condition with diverse underlying etiologies. One rare form of intellectual disability is secondary to the loss of TRAPPC9, an activator of NF-κB and a mediator of intracellular protein processing and trafficking. TRAPPC9 deficiency has been described in 48 patients with more than 15 pathologic variants. METHOD: Clinical evaluation, magnetic resonance...

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Identifiers

PMID: 32162493
DOI: 10.1002/mgg3.1211
PMCID: PMC7216808

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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