Fig. 2.

Diagram showing the structure of RAI1 in the genome with 6 exons and summarizing truncating mutations associated with SMS. All truncating mutations reported to date are indicated, including those described in this study¹ and in Slager et al. [2003]², Bi et al. [2004]³, Girirajan et al. [2005]⁴, Girirajan et al. [2006]⁵, Bi et al. [2006]⁶, Truong et al. [2010]⁷, and Vilboux et al. [2011]⁸: 4 nonsense (indicated by lightning flashes) and 17 frameshift (indicated by arrows) mutations. The numbering of nucleotides is based on GenBank NM_030665.3. The filled boxes represent the RAI1 coding region, and the hollow boxes represent noncoding regions.