PMC7652820_01
PMC7652820_02
(A) Pedigree of the family and Sanger sequencing results of each family member. (B) The proband's polymerase chain reaction (PCR) product contains two electrophoretic bands: 569 and 493 bp; the wild-type has only one band: 596 bp. (C) Sanger sequencing results of the reverse transcription (RT)-PCR product of the fetus and the wild-type, respectively. (D) Quantitative-PCR of phosphatidylinositol-glycan biosynthesis class N (PIGN) reveals lower expression in the patient than in the normal control.
fgene-11-594078-g001.jpg
PMC7652820_02_fgene-11-594078-g001.jpg
F1
Sanger sequencing of the patient and his family members validated these results (Figure 1A). A > G led to skipping of exon 26 (Figures 1B,C). A hazardous assessment of the mutation: c.963G > A/p.Gln321 = was conducted. Q-PCR of the PIGN transcript revealed that levels of the patient mRNA were decreased compared to those in the normal control subjects (Figure 1D).