Figure 4.

Clinical presentation of a novel syndrome in a Finnish family with XLID and segregation of the ZMYM3 missense mutation. a) Pedigree showing the inheritance of the ZMYM3 mutation in family D222, open circles show females, circles with a dot in the middle show obligate carrier females, empty square show males, the left half of the black squares show affected males, the right half of the squares show mutation positive males, crossed symbols denote deceased individuals, wt denote mutation negative subject, b) Photographs of the three affected males, c) Sanger sequencing confirming the mutation, d) Multiple species protein alignment showing conservation of the mutated R441 residue in ZMYM3.