PMC9830013_01
Clinical course during the acute phase along with changes in levels of serum lactate, CK, AST, ALT, and LDH. ALT, alanine aminotransferase; AST, aspartate aminotransferase; CK, creatine kinase; LDH, lactate dehydrogenase; MCT, medium-chain triglyceride
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The clinical course during the acute phase and the transition is shown in Figure 1.
Genetic analysis. (A) Electropherograms of Sanger sequencing results. A homozygous c.623T>C (Leu208Pro) in the patient and heterozygosity in her father are shown. (B) eXome Hidden Markov Model analysis using exome data of 74 samples showed a decrease in read depth in exon 7 at the patient read depth (red line). (C) Agarose gel electrophoresis of the deletion-specific PCR products. The PCR products were successfully amplified from the patient and her mother. (D) Sanger sequencing of deletion-specific PCR products, including junctions. The red line represents the breakpoints. The orange bar indicates microhomology at the breakpoint junction
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Using direct Sanger sequencing, the variant was confirmed in the father as a heterozygous state, although no variant was found in the mother (Figure 2A). TANGO2 gene, we carried out a quantitative analysis of the patient's exome sequencing data using an eXome Hidden Markov Model (XHMM). The result indicated that the patient had a deletion of exon 7, in which c.623T>C was located on the other allele (Figure 2B). Deletion-specific polymerase chain reaction (PCR) confirmed that the deleted allele was inherited from his mother, indicating that the patient was compound heterozygous for the c.623T>C mutation and exon 7 deletion (Figure 2C). Direct Sanger sequencing of the PCR product revealed that the breakpoint junction contained three nucleotides of microhomology at the fusion junction (Figure 2D).