Figure 5.

Mutations in downstream neighbor of son (DONSON) and geminin (GMNN) cause Meier-Gorlin syndrome. Exon and intron schematic was generated with the UCSD genome browser. Reference sequences are DONSON NM_017613.4 and GMNN NM_015895.5. Schematic of (A) DONSON and (B) GMNN genes depicted with exons as black boxes and introns as horizontal lines. Mutations are mapped to the appropriate gene regions. “H” superscript indicates a homozygous mutation. “D” superscript indicates a heterozygous dominant mutation. Compound heterozygous mutation pairs are indicated by superscript symbols. Each mutation combination is depicted, and certain alleles may be present in multiple combinations. The frequency of each allele in the affected population is not indicated. (C) For each gene, the color of the mutations indicates the type of mutation according to this key.