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.

中文翻译：

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DiGeorge 样综合征患者 HIRA 的从头开始丢失变异

法洛四联症新生儿一例，胼胝体发育不全，表型特征类似迪乔治综合征。染色体微阵列分析没有发现任何改变。全外显子组测序和桑格测序鉴定出HIRA基因中的一个从头变异，导致起始密码子丢失。