Homo sapiens Genome sequencing and assembly
The patient had compound heterozygous variants in the PI4KA gene, c.4076T>G (p.Leu1359Arg); c.6082C>T (p.Arg2028Trp). Sanger sequencing verified that the variants were derived from the father (c.4076T>G) and the mother c.6082C>T. This variant locus has not been reported in the literature