case_images: PMC8238196_01
case_images: Case timeline.
case_images: fgene-12-664278-g001.jpg
case_images: PMC8238196_01_fgene-12-664278-g001.jpg
case_images: fig1
case_images: She was admitted to her delivery hospital NICU and transferred to our children's hospital at 1 month of age for ongoing respiratory failure on day of life (DOL) 34 (see Figure 1).
case_images: Mutation diagram of polymerase gamma.
case_images: fgene-12-664278-g002.jpg
case_images: PMC8238196_01_fgene-12-664278-g002.jpg
case_images: fig2
case_images: Given the family history and lack of a unifying diagnosis, trio (mother, father, and proband) rapid exome sequencing (rES) was performed by send out to a commercial reference lab (GeneDx, MD, United States) and showed four variants in the POLG gene and one variant in the FLNA gene (see Table 1 for details on specific variants and classification and Figure 2 for relative location of variants). This variant was therefore considered a VUS (see Table 1; Figure 2).