PMC10189016_01
qPCR and agarose electrophoresis results from the patient's family. (A) qPCR results from the patient's family. (B) Results of agarose electrophoresis of the qPCR product from the patient's family. Her father has only one chromosome band with a fragment length of 7,181, which is the full length of the amplification product. In addition to this, the patient, her mother, and her sister have an additional chromosome band with a fragment length of 250 bp, which is the length of the truncated fragment.
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F1
The test values for the patient, her mother, her sister, and her father were 0.47712, 0.32836, 0.51949, and 0.82228, respectively, indicating that the first three lost one copy of the MLYCD gene (Figure 1A). QPCR products of the three individuals were examined by agarose electrophoresis and all were found to have a truncated fragment of 250 bp (Figure 1B).
Sequence analysis results of the MLYCD gene of the patient and her family. The patient and her father have a novel heterozygous mutation (red box) in exon 3 (c.672del/p.Trp224*).
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F2
Another mutation c.672delG in the patient and father, previously identified by WES, was also detected by WGS and confirmed by Sanger sequencing (Figure 2).