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. 2021 Jul 16;6(10):2722–2725. doi: 10.1016/j.ekir.2021.07.013

Figure 2.

Figure 2

Genetic mutations in adipose triglyceride lipase (ATGL). (a) Schematic representation of the large deletion in the ATGL gene. A 4814-bp deletion in the patient removed the majority of the protein-coding exons, spanning from exon 2 to an internal region of intron 9. Protein-coding sequences are shown in black. Arrows indicate the forward and reverse primers used for the genotyping polymerase chain reaction (PCR). (b) Sequence analysis of the large deletion areas from the 2 patients. Vertical arrows and triangles indicate the points of deletion. (c) Genotyping PCR test for the large deletion. Genotyping PCR was conducted using 3 primers: an exon 2 primer, an exon 9 primer, and a reverse primer. Lane 1: healthy control. Lane 2: mother. Lane 3: father. Lane 4: older brother. Lane 5: younger brother. Lane M: ladder marker. A single 350-bp fragment was observed in both patients who were homozygous for this large deletion. A single 430 bp band represents the wildtype allele.