Table 1.
ASD Patient RELN mutations by sex. Mutations identified in the RXR consensus sequence in ASD probands are listed along with patient gender, either male (M), female (F), or no report available (N/A). Exome Aggregation Consortium (ExAC) database allele count is listed for each variant (exac.broadinstitute.org). This database includes sequence information from 60,706 unrelated individuals from several case-control studies, excluding ASD, but including schizophrenia and bipolar patients.
| Disease Mutation | Sex | Reference | ExAC frequency |
|---|---|---|---|
| R1742Q | M, M | Bonora et al., De Rubeis et al. |
31 |
| R1742W | N/A | Bonora et al. | 2 |
| R2290C | M | Iossifov et al. | 0 |
| R2290H | F, M | Bonora et al. | 0 |
| R2292C | M | De Rubeis et al. | 5 |
| R2639H | M | De Rubeis et al. | 2 |
| R2833S | M | De Rubeis et al. | 0 |