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

Clin Genet. 2024 Jun;105(6):683-685. doi: 10.1111/cge.14521. Epub 2024 Mar 21.

Abstract

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.

Keywords: DiGeorge syndrome; HIRA; start‐loss; tetralogy of Fallot.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Agenesis of Corpus Callosum / genetics
  • Cell Cycle Proteins* / genetics
  • DiGeorge Syndrome* / genetics
  • DiGeorge Syndrome* / pathology
  • Exome Sequencing
  • Female
  • Histone Chaperones* / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Pedigree
  • Phenotype
  • Tetralogy of Fallot / genetics
  • Transcription Factors / genetics

Substances

  • Cell Cycle Proteins
  • HIRA protein, human
  • Histone Chaperones
  • Transcription Factors