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. 2017 Oct 23;8(10):286. doi: 10.3390/genes8100286

Figure 1.

Figure 1

Pedigree RF.L.11.10 and segregation of mutations in KIZ and C21orf2 with recessive RD. I:1–5 represents elder siblings (three unaffected males and two unaffected females) of I:6. (-) Indicates presence of wild type allele where as V1, V2 and V3 indicate the mutant alleles. The homozygous nonsense mutation p.Arg76* in KIZ (V1) segregated with disease in one branch of the family with affected members II:1 and II:3. A 1.1Kb homozygous deletion V2 (Chr21: 45,755,728–45,756,862) in C21orf2 gene was observed in II:4 from a different branch of the pedigree RF.L.11.10. An additional 30Kb heterozygous deletion V3 (Chr12: 1,949,399–1,980,050) in CACNA2D4 gene was also observed in the affected member II:4.