Figure 2

Pedigree of the PKAN family along with their representative sequence electrophoregrams indicating the autosomal recessive mode of transmission of NM_153638.3: c. 1069C > T PANK2 variation. The proband IV(1) and her affected sibling IV(2) were found to be homozygous (TT) for the variation, and II(1), III(3), III(4) and IV(3) to be carriers (CT) of the variation whereas this variation was found to be absent in II(2) and IV(3). Squares represent the males and circles females, filled symbols affected, unfilled unaffected, partially-filled carriers and arrows mark the proband.