Figure 1
Family structure and molecular genetic diagnosis of a novel BBS5 mutation. (A) Pedigree diagram showing three affected siblings (shaded figures) from a consanguineous family with BBS. Circles represent females, squares represent males. Carrier (heterozygous) status is shown by a dotted symbol. (B) Sequencing chromatogram s from exon 12 of BBS5 gene showing a homozygous duplication of T nucleotide in affected son (IV:4) and segregation of the mutation from each parent.