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. 2012 Dec 12;7(12):e51566. doi: 10.1371/journal.pone.0051566

Figure 1. Family trees and segregation analysis of the USH1C c.1220delG mutation.

Figure 1

A. Structure of the two families that were selected for whole exome sequencing. The family number is indicated above the corresponding family tree. Filled symbols represent affected individuals, whereas clear symbols represent unaffected individuals. Generation numbers are depicted on the left and individual numbers below each symbol. The USH1C genotype is presented as: M/M, homozygous for the c.1220delG mutation; M/+, heterozygous; +/+, homozygous for the wildtype allele. Index cases are marked with an arrow. B. Sequence chromatograms of part of USH1C exon 15 of a control individual (top), a heterozygote (middle), and a patient who is homozygous for the mutation (bottom). The c.1220delG mutation (boxed) results in a frameshift (p.Gly407Glufs*56).