Appendix 1 of Eiberg, Mol Vis 2019; 25:1-11.
Selected sub-pedigree for the Volkmann family modified from Eiberg et al. . The key persons II:4 and III:8 show recombination events (shown by an arrow) that delimit the linkage region. Note that the disease haplotype in II:4 is telomeric to D1S243 and individuals III:5 and IV:10 are unaffected carriers. One of the twins (IV:9) had a mild cataract at age 16, but after reexamination at age 30 had normal vision. Individual III:3 had vision problems, but no cataract at the time of examination. Inferred haplotypes are shown in italics, and the disease haplotype is boxed. The extended pedigree for the 426 members large family can be found in . The filled symbols represent cataractous affected individuals, squares are males and circles are females. III:11 and IV:1 (marked S) were Sanger sequenced for 44 genes in the region 1pter-D1S243, IV:3 (marked T) was target-NGS and IV:7 (marked WGS) was whole genome sequenced. 1. Eiberg H, Lund AM, Warburg M, Rosenberg T. Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36. Hum Genet 1995; 96: 33-8. To access the data, click or select the words “Appendix 1.”