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. 2020 Feb 12;41(5):998–1011. doi: 10.1002/humu.23993

Figure 2.

Figure 2

Pedigrees segregating the CEP78 and SPAG17 variants, and haplotype reconstruction for the c.449T>C/p.(Leu150Ser) variant in CEP78. (a) F3, II:1 and II:2 are compound heterozygous for c.[449T>C]; [1462‐1G>T] p.[Leu150Ser];[?]. In F1, two variants p.(Pro1376LeufsTer8) and p.(Ala316Ser) were identified in SPAG17, occurring however in cis. (b) Haplotype reconstruction highlighted p.(Leu150Ser) in CEP78 as a founder allele. Complete haplotype is available in Table S10. M, mutant allele; +, wild‐type allele