case_images: PMC6856633_01
case_images: SLC25A13 and SLC10A1 genetic analysis of the three families. SLC25A13 analysis revealed that patients 1 (A) and 2 (B) were both homozygotes of the c.852_855del4 mutation while patient 3 (C and D), a compound heterozygote of the mutations c.852_855del4 and c.1638_1660dup. On SLC10A1 analysis, patients 1 (E), 2 (F), and 3 (G) as well as her father were all homozygotes, while the parents of patients 1 and 2 and the mother of patient 3, all carriers, of the variant c.800C>T(p.Ser267Phe). NC (normal control), Hom (homozygous control), Het (heterozygous control). The "-" and "+" over every lane in panels E-G represented with and without enzymatic digestion by using the HphI enzyme, respectively.
case_images: fgene-10-01108-g001.jpg
case_images: PMC6856633_03_fgene-10-01108-g001.jpg
case_images: f1
case_images: On genetic analysis, the patient was a compound heterozygote of the SLC25A13 mutations c.852_855del4 and c.1638_1660dup, which was inherited from the father and mother, respectively ( Figures 1C, D ); moreover, the patient and her father were both homozygous for the SLC10A1 variant c.800C > T (p.Ser267Phe), while her mother was a carrier ( Figure 1G ).
case_images: PMC6856633_02
case_images: SLC25A13 and SLC10A1 genetic analysis of the three families. SLC25A13 analysis revealed that patients 1 (A) and 2 (B) were both homozygotes of the c.852_855del4 mutation while patient 3 (C and D), a compound heterozygote of the mutations c.852_855del4 and c.1638_1660dup. On SLC10A1 analysis, patients 1 (E), 2 (F), and 3 (G) as well as her father were all homozygotes, while the parents of patients 1 and 2 and the mother of patient 3, all carriers, of the variant c.800C>T(p.Ser267Phe). NC (normal control), Hom (homozygous control), Het (heterozygous control). The "-" and "+" over every lane in panels E-G represented with and without enzymatic digestion by using the HphI enzyme, respectively.
case_images: fgene-10-01108-g001.jpg
case_images: PMC6856633_03_fgene-10-01108-g001.jpg
case_images: f1
case_images: On genetic analysis, the patient was a compound heterozygote of the SLC25A13 mutations c.852_855del4 and c.1638_1660dup, which was inherited from the father and mother, respectively ( Figures 1C, D ); moreover, the patient and her father were both homozygous for the SLC10A1 variant c.800C > T (p.Ser267Phe), while her mother was a carrier ( Figure 1G ).
case_images: PMC6856633_03
case_images: SLC25A13 and SLC10A1 genetic analysis of the three families. SLC25A13 analysis revealed that patients 1 (A) and 2 (B) were both homozygotes of the c.852_855del4 mutation while patient 3 (C and D), a compound heterozygote of the mutations c.852_855del4 and c.1638_1660dup. On SLC10A1 analysis, patients 1 (E), 2 (F), and 3 (G) as well as her father were all homozygotes, while the parents of patients 1 and 2 and the mother of patient 3, all carriers, of the variant c.800C>T(p.Ser267Phe). NC (normal control), Hom (homozygous control), Het (heterozygous control). The "-" and "+" over every lane in panels E-G represented with and without enzymatic digestion by using the HphI enzyme, respectively.
case_images: fgene-10-01108-g001.jpg
case_images: PMC6856633_03_fgene-10-01108-g001.jpg
case_images: f1
case_images: On genetic analysis, the patient was a compound heterozygote of the SLC25A13 mutations c.852_855del4 and c.1638_1660dup, which was inherited from the father and mother, respectively ( Figures 1C, D ); moreover, the patient and her father were both homozygous for the SLC10A1 variant c.800C > T (p.Ser267Phe), while her mother was a carrier ( Figure 1G ).
case_images: Genotyping results by Sanger sequencing analysis in the three unrelated families. On SLC25A13 analysis (A), patients 1 and 2 were both homozygotes of the c.852_855del4 mutation while patient 3, a compound heterozygote of the mutations c.852_855del4 and c.1638_1660dup. The parents of patients 1 and 2 as well as the father of patient 3 were all carriers of the c.852_855del4 mutation, while the mother of patient 3, a carrier of c.1638_1660dup. On SLC10A1 analysis (B), patients 1, 2, and 3 as well as her father were all homozygotes, while the parents of patients 1 and 2 and the mother of patient 3, all carriers, of the variant c.800C > T(p.Ser267Phe).
case_images: fgene-10-01108-g002.jpg
case_images: PMC6856633_03_fgene-10-01108-g002.jpg
case_images: f2
case_images: The molecular findings above were further confirmed by Sanger sequencing ( Figure 2 ) and illustrated as family tree diagrams ( Figure 3 ).
case_images: Diagrams for family trees with the causative genes SLC25A13 and SLC10A1. The upper and lower panel illustrated the SLC25A13 and SLC10A1 genotyping findings in the three families, respectively.
case_images: fgene-10-01108-g003.jpg
case_images: PMC6856633_03_fgene-10-01108-g003.jpg
case_images: f3
case_images: The molecular findings above were further confirmed by Sanger sequencing ( Figure 2 ) and illustrated as family tree diagrams ( Figure 3 ).