Table 2
Summary of the mutations in four non-Finnish Cohen syndrome pedigrees
| Pedigree | Mutation | Protein change | Exon | Homozygous/heterozygous | Novel/reported |
|---|---|---|---|---|---|
| Omani | 7934 G>A | G2645D | 43 | Homozygous | Novel |
| Saudi Arabian | 1219 C>T | Q407X | 9 | Homozygous | Novel |
| Japanese | 7221 del G | Q2407H...V2414X | 40 | Heterozygous | Novel |
| French | 7051 C>T | R2351X | 39 | Heterozygous | Reported |
| 11598 del A | E3867K...V3877X | 61 | Novel |
