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Article

De novo start-loss variant in HIRA in patient with DiGeorge-like syndrome.

Clinical genetics - 1 Jun 2024

Maslennikov Dmitry, Tolmacheva Ekaterina, Shubina Jekaterina, Vasiliev Grigory, Rogacheva Margarita, Svirepova Ksenia, Trofimov Dmitry

Abstract excerpt

A case of a newborn with tetralogy of Fallot, corpus callosum hypoplasia, and phenotypic features similar to DiGeorge syndrome. Chromosomal microarray analysis did not reveal any alterations. Whole exome sequencing and Sanger sequencing identified a de novo variant in the HIRA gene resulting in the loss of the start codon.

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Source

Identifiers

PMID: 38511226
DOI: 10.1111/cge.14521

Genes

HIRA

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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