Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies.

doi:10.1111/cge.70013

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Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies.

Clinical genetics - 1 Jan 2026

Minotti Chiara, Terreri Sara, Del Fattore Andrea, Lepri Francesca Romana, Ruta Rosario, Iascone Maria, Pezzoli Laura, Dentici Maria Lisa, Novelli Antonio, Armando Michelina, Longo Daniela, Novelli Giuseppe, Barbuti Domenico, Bartuli Andrea, Cavallari Ugo, Graziani Ludovico, Digilio Maria Cristina, Sinibaldi Lorenzo

Abstract excerpt

TRRAP encodes a multidomain pseudokinase involved in histone acetyltransferase complexes. TRRAP pathogenic variants were linked to neurodevelopmental disorders, intellectual disability, congenital anomalies, and hearing loss. We report on three unrelated patients with TRRAP missense variants. Patient #1, a girl with severe intellectual disability, autism features, and preaxial polydactyly, displays the c.5575C>T,...

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Identifiers

PMID: 40583039
DOI: 10.1111/cge.70013
PMCID: PMC12674977

Genes

TRRAP

Variants

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

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