Figure 9. Pedigree and haplotype analysis for Family 5

The pedigree and haplotype analysis of the 27 members of Family 5 are shown. The R38C mutation was found. Those affected males presented with XL-FEVR. This substitution was also identified in a 60-year-old man who was asymptomatic (III:3). In this pedigree, we found one female with Turner syndrome (IV:8) who lacks the X chromosomes from her mother. Individual III:8 did not participate in the molecular study. Haplotype analysis confirmed that Families 4 and 5 share the same haplotype (Figure 7), which is consistent with identity by descent.