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

Dmitry MaslennikovEkaterina R TolmachevaJekaterina ShubinaGrigory VasilievMargarita RogachevaKsenia SvirepovaDmitry Trofimov
Published in: Clinical genetics (2024)
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.
Keyphrases
  • case report
  • genome wide
  • copy number
  • single cell
  • gene expression
  • genome wide analysis