PMC9154161_01
Represents case 1, where the proband harbours heterozygotic mutations with single base pair deletion in exon 31 (chr8:144998220delC; c. 6288del; p. Arg2097AlafsTer55) and two base pair deletion in exon 27 (chr8:145001693_145001694delCT; c. 4054_4055del; p. Ser1352CysfsTer68) of PLEC gene. The father is detected with heterozygous variant in exon 31(chr8:144998220delC; c. 6288del; p. Arg2097AlafsTer55) and mother with heterozygote variant in exon 27 (chr8:145001693_145001694delCT; c. 4054_4055del; p. Ser1352CysfsTer68) of PLEC gene
IJD-67-45-g001.jpg
PMC9154161_01_IJD-67-45-g001.jpg
F1
Arg2097AlafsTer55) was detected in the heterozygous condition in the asymptomatic father of the patient, but not in the mother [Figure 1a and b].
Sequence chromatogram and alignment to the reference sequence showing the variation in exon 31 of the PLEC gene (chr8:144998220delC; c. 6288del; p. Arg2097AlafsTer55) detected in heterozygous condition in the father of the proband (a) and not detected in the mother of the proband (b)
IJD-67-45-g002.jpg
PMC9154161_01_IJD-67-45-g002.jpg
F2
Ser1352CysfsTer68) of the PLEC gene was detected in the heterozygous condition in the asymptomatic mother of the patient, but not in the father [Figure 2a and b].
PMC9154161_02
Sequence chromatogram and alignment to the reference sequence showing the variation in exon 27 of the PLEC gene (chr8:145001693_145001694delCT; c. 4054_4055del; p. Ser1352CysfsTer68) detected in heterozygous condition in the mother of the proband (b) and not detected in the father of the proband (a)
IJD-67-45-g003.jpg
PMC9154161_02_IJD-67-45-g003.jpg
F3
The validation of the variant is done by Sanger sequencing [Figure 3].