Figure 1

Overview of the mutations reported in SLC16A2 gene in two Finnish families with Allan Herndon Dudley Syndrome. a) Family pedigree of L107 showing the inheritance of SLC16A2 mutation, 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) Sanger sequencing confirming the missense mutation c.1111C > T, c) Multiple species protein sequence alignment showing conservation of the mutated R371 residue, d) Family pedigree of D299 showing the inheritance of SLC16A2 mutation, e) Sanger sequencing confirming the frameshift insertion c.990_991insGCTGC.