Figure 1. Cosegregation analysis of the
mutations.
A: Pedigree of the Spanish family and segregation
analysis of the p.Arg130Ser mutation of
BEST1. The siblings
were homozygous for p.Arg130Ser while the parents demonstrate
heterozygosity for the mutation. Double lines indicate first degree
cousins and symbols with a dot inside indicate carry individuals for
the mutation.
B: Pedigree of the Danish family with
BEST1
mutations, modified from Schatz et al. [
12]. In the present study, four additional
family members were examined, marked by an asterisk. M/+ denotes
heterozygosity for mutations in
BEST1, whereas M/M denotes
homozygosity.