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Article

DBR1 Gene Mutation: Pathogenicity in the Homozygous State and Its Phenotype in Two Siblings.

Clinical genetics - 1 May 2026

Shawli Aiman, Aljedani Hanan, Mazi Jomanah, Felemban Dalia, Aljemaey Sarah

Abstract excerpt

The RNA lariat debranching enzyme (DBR1) facilitates the hydrolysis of 2'-5' prime branched phosphodiester bonds. It acts on the bonds at the junction of excised lariat intron RNA, converting them into linear molecules for degradation. Mutations in the gene result in the accumulation of lariat introns, leading to multiple system dysfunction. This case involves two siblings who exhibited a homozygous gene mutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41366235
DOI: 10.1111/cge.70123

Genes

DBR1

Variants

Provenance

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

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