Figure 3.

Overview of the two splice donor mutations identified in DLG3 in two Finnish families. a) Pedigree of family D172 showing the inheritance of the DLG3 splice donor mutation c.357 + 1G > C, open circles denote females; circles with a dot in the middle denote obligate carrier females, empty square show 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 result showing the mutation in one affected male, c) Pedigree of family D301 showing the inheritance of the DLG3 splice donor mutation c.985 + 1G > C, d) Sanger sequencing result showing the mutation in one affected male, e) Schematic representation of the DLG3 gene, along with overview of previously reported mutations and mutations reported in the current study.