PMC5951959_01
(A) Photographs taken at 10 months-old; (B) T1 weighted cranial magnetic resonance imaging; (C) Family pedigree of segregation of the PIGT c.550G>A; (D) Sanger sequencing of the proband and his parents and old sister; (E) EEG of the proband at 10 months-old. (A) Shown the high forehead with frontal bossing, narrow bitemporal, depressed nasal bridge, tented lip, wide and opening mouth, high arched palate, low ear set of the proband. (B) Widen subarachnoid and cerebellar atrophy especially in vermis. (C) The PIGT c.550G>A segregated with the clinical syndrome, in which the proband is homozygous recessive and his asymptomatic parents and healthy old sister are heterozygous; (D) Chromatograms of the Sanger sequencing, showing the homozygous PIGT c.550G>A variant in the proband and heterozygous variants in his parents and old sister. (E) (Left) Frequent myoclonia on the waking stage; (Right) Numerous of slow waves and slow-spike waves in bilateral hemisphere, especially in posterior head.
fgene-09-00153-g0001.jpg
PMC5951959_02_fgene-09-00153-g0001.jpg
F1
An unborn sibling was artificially aborted (Figure 1C) due to cerebellar aplasia diagnosed by fetal ultrasonography. This variant was confirmed by Sanger sequencing, both his asymptomatic parents, as well as his healthy old sister are heterozygous (Figures 1C,D).
PMC5951959_02
(A) Photographs taken at 10 months-old; (B) T1 weighted cranial magnetic resonance imaging; (C) Family pedigree of segregation of the PIGT c.550G>A; (D) Sanger sequencing of the proband and his parents and old sister; (E) EEG of the proband at 10 months-old. (A) Shown the high forehead with frontal bossing, narrow bitemporal, depressed nasal bridge, tented lip, wide and opening mouth, high arched palate, low ear set of the proband. (B) Widen subarachnoid and cerebellar atrophy especially in vermis. (C) The PIGT c.550G>A segregated with the clinical syndrome, in which the proband is homozygous recessive and his asymptomatic parents and healthy old sister are heterozygous; (D) Chromatograms of the Sanger sequencing, showing the homozygous PIGT c.550G>A variant in the proband and heterozygous variants in his parents and old sister. (E) (Left) Frequent myoclonia on the waking stage; (Right) Numerous of slow waves and slow-spike waves in bilateral hemisphere, especially in posterior head.
fgene-09-00153-g0001.jpg
PMC5951959_02_fgene-09-00153-g0001.jpg
F1
An unborn sibling was artificially aborted (Figure 1C) due to cerebellar aplasia diagnosed by fetal ultrasonography. This variant was confirmed by Sanger sequencing, both his asymptomatic parents, as well as his healthy old sister are heterozygous (Figures 1C,D).
(A) Flow cytometry of the proband, parents and controls; (B) Flow cytometry of the old sister of the proband and the controls; (C) PIGT mRNA expression on PBMCs. (A) The abscissa indicates the intensity of the fluorescence, the ordinate indicates the number of cells, the light gray shade represents the blank control, the dark gray shade represents the normal control, the black thick line represents the patient, the black fine line represents his mother, the black dotted curve represents his father. Shown that the expression of total GPI anchoring molecules in this patient was reduced to 39.11% of the normal controls. The expression of CD59 of the proband was similar with the normal controls. The expression of CD16 was reduced to 16.92% of the normal control and the expression of CD24 was reduced to 22.16%. Meanwhile, the abundance of the same proteins in the leucocytes of his parents was normal. (B) Shown that the level of CD16, CD24 and CD59 of the old sister (the dotted line) of the proband had no significant difference with the normal controls (The dark gray shades). (C) The level of PIGT mRNA on PBMCs of the proband was significantly higher than the two healthy controls (C).
fgene-09-00153-g0002.jpg
PMC5951959_02_fgene-09-00153-g0002.jpg
F2
The expression of CD16 of the proband was reduced to 16.92% of the normal control, and the expression of CD24 of the proband was reduced to 22.16% (Figure 2A). The abundance of the same proteins of his parents, as well as his old sister (Figures 2A,B). The result of QPCR indicated that the level of PIGT mRNA on PBMCs of the proband increased significantly (Figure 2C).