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Article

TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant.

Genes - 3 Jun 2026

Calvo Marta, Reynolds Giuseppe, Luca Maria, Di Gregorio Eleonora, Cardaropoli Simona, Salvo Eliana, Carelli Ilaria, Rondot Federico, Massuras Stefania, Carli Diana, Marinoni Roberta, Bonaglia Maria Clara, Mussa Alessandro

Abstract excerpt

Background: Autosomal recessive intellectual developmental disorder-13 (MRT13; OMIM #613192) is a rare neurodevelopmental disorder caused by pathogenic variants in TRAPPC9. Most reported variants are single-nucleotide variants (SNVs), small insertions/deletions, or copy number variants (CNVs), whereas complex structural variants (SVs) remain poorly characterized. Objectives: This study sought to review the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42353817
DOI: 10.3390/genes17060658
PMCID: PMC13299287

Genes

TRAPPC9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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