Figure 1.

PRDM6 p.Arg549Gln in a Large PDA-Affected Kindred

(A) Pedigree PDA-101 is shown. Individuals with PDA are indicated by black symbols, individuals without PDA are shown as unfilled symbols, and individuals with unknown PDA status are shown with partially filled squares. Circles represent females, squares represent males, and symbols with a slash through them indicate deceased subjects. Haplotypes on 5q23 are shown under each individual.

(B) Multipoint LOD scores for linkage of PDA to 5q23. SNPs tightly linked to the location of PRDM6 in the LOD-1 region are shown. The maximum LOD score is indicated, and the location of PRDM6 is shown. The LOD score peak occurs at θ = 0 with marker rs2081914, and the LOD-1 interval spans 10 cM.

(C) The DNA sequence of a segment flanking c.1646G>A in PRDM6 is shown from an unaffected kindred member (left) and a heterozygous mutation carrier (right). This single-base substitution (asterisk) changes the wild-type arginine to glutamine at amino acid 549 (p.Arg549Gln).

(D) A portion of the PRDM6 amino acid sequence flanking Arg549 is shown from diverse vertebrate species.