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

Clin Genet. 2024 Mar 21. doi: 10.1111/cge.14521. Online ahead of print.ABSTRACTA 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.PMID:38511226 | DOI:10.1111/cge.14521

Source: Clinical Genetics - March 21, 2024 Category: Genetics & Stem Cells Authors: Dmitry Maslennikov Ekaterina Tolmacheva Jekaterina Shubina Grigory Vasiliev Margarita Rogacheva Ksenia Svirepova Dmitry Trofimov Source Type: research