Figure 5. Pedigree of 7 CP1 NSDTR families depicting segregation of the mutant allele with the LINE-1 element insertion.

Filled symbols represent NSDTRs with the CP1 phenotype. Diagonal lines indicate that the NSDTR is deceased. “+” represents wildtype allele. “m” represents the mutant allele. [ ] genotypes were inferred if DNA was not available.