case_images: PMC10957550_01
case_images: Laboratory and gene analysis of CFH and CFHR. (A) Family tree. There were 3 members of the family who were affected by aHUS or TMA (I-1, II-4, and IV-1) and 3 members of the family (II-4, III-4, and IV-1) carrying the CFH::CFHR1 fusion gene and CFHR3-1-4-2 duplication.I-1: Great grandmother II-4: Grandfather III-3: Mother III-4: Father IV-1: Proband. (B) The result of MLPA analysis in the patient (IV-1). MLPA analysis over the CFH-CFHR region shows a 1.5-fold ratio in a large region beginning with CFH downstream and ending CFHR2 gene exon 4. The numbering of CFH exon in the graph follows the instructions for use of the SALSA  MLPA  Probemix P236-B1 CFH Region. (C) Estimation of CFH-CFHR region of the patient. The CFH::CFHR1 fusion gene is caused by a gene conversion between CFH gene exon 23 and CFHR1 gene exon 6. The duplication occurred from the CFHR3 gene to the CFHR2 gene. (D) Sequencing analysis of breakpoint between CFHR2 and CFHR3 gene (Breakpoint 3). In the normal allele, CFHR5 exon 1 exists after the CFHR2 downstream sequence. CFHR3 exon 1 exists after the CFHR2 downstream sequence in the abnormal allele. The breakpoint is located in a region 2 bp between the CFHR2 downstream and CFHR3 upstream region.
case_images: fimmu-15-1360855-g001.jpg
case_images: PMC10957550_01_fimmu-15-1360855-g001.jpg
case_images: f1
case_images: Both of her parents were healthy and had no history of TMA; however, her paternal grandfather experienced sudden renal failure in his thirties and had been on dialysis for 40 years (Figure 1A).