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Article

Cardiological Manifestations in Males and Females Affected by NAA10 -Related Disease.

American journal of medical genetics. Part A - 1 Sept 2025

Bottillo Irene, De Luca Chiara, Cordella Angela, Passeri Marina, Salvatore Marco, Fortugno Paola, Leonardi Silvia, Dofcaci Alessandro, Sciarra Luigi, Romano Silvio, Musumeci Maria Beatrice, Autore Camillo, Grammatico Paola, Brancati Francesco

Abstract excerpt

We report a family with two affected brothers presenting hypertrophic cardiomyopathy, prolonged QT interval, and intellectual disability who, after a dozen years of inconclusive genetic testing, were found to share a previously undescribed variant c.549delA (p.Gly184Alafs*67) in the X-linked NAA10 gene. Their mother was heterozygous for the variant and had a long history of unexplained cardiac arrhythmia. NAA10...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40304357
DOI: 10.1002/ajmg.a.64096

Genes

NAA10

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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