2.3 Identification of PDHA1 variants
Blood samples were collected from the patients and their parents after
obtaining written informed consent from the parents. This study was
approved by the Committee for Ethical Issues at Asahikawa Medical
University. We performed whole exome sequencing in patient 1 as
previously described8 and direct sequencing ofPDHA1 in patient 2 and, in both, identified a same frameshift
variant in PDHA1 , NM_000284.3:c.934_940del, p.(Ser312Valfs*12)
(Figure 2). Testing of the patients’ parents confirmed that thePDHA1 variant emerged de novo .