Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.

doi:10.1016/j.ymgme.2024.108511

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Article

Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.

Molecular genetics and metabolism - 1 Jul 2024

Morales-Romero Blai, Muñoz-Pujol Gerard, Artuch Rafael, García-Cazorla Angels, O'Callaghan Mar, Sykut-Cegielska Jolanta, Campistol Jaume, Moreno-Lozano Pedro Juan, Oud Machteld M, Wevers Ron A, Lefeber Dirk J, Esteve-Codina Anna, Yepez Vicente A, Gagneur Julien, Wortmann Saskia B, Prokisch Holger, Ribes Antonia, García-Villoria Judit, Tort Frederic

Abstract excerpt

The diagnosis of Mendelian disorders has notably advanced with integration of whole exome and genome sequencing (WES and WGS) in clinical practice. However, challenges in variant interpretation and uncovered variants by WES still leave a substantial percentage of patients undiagnosed. In this context, integrating RNA sequencing (RNA-seq) improves diagnostic workflows, particularly for WES inconclusive cases....

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Identifiers

PMID: 38878498
DOI: 10.1016/j.ymgme.2024.108511

Genes

ATP6AP1
HAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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