Figure 5

A clinical presentation of a novel syndrome in a Finnish family (D175) with XLID. a) Family pedigree showing the inheritance of the benign variant in SYP, open circles denote females, circles with a dot in the middle denote obligate carrier females, empty square denote males, the left half of the black squares denote affected males, the right half of the squares denote mutation positive males, crossed symbols denote deceased individuals, wt denote mutation negative subject, b) Photographs of the six affected males, c) Sanger sequencing confirming the benign variant, d) Multiple species protein alignment showing conservation of the mutated Gly293 residue in SYP, e) Schematic presentation of the SYP protein domains, location of the published mutations and the polymorphism identified in this study.