PMC8238196_01
Case timeline.
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fig1
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).
Mutation diagram of polymerase gamma.
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fig2
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).