Seipin mutations in mentally retarded subjects and non-mentally retarded subjects
| Mutation | No of patients n=45 | Ethnic background | MR | |
|---|---|---|---|---|
| Nonsense 32/45 (71%) | F63fsX75 | 2 | Norwegian | Yes |
| Italian (Sicily) | Yes | |||
| F101fsX111 | 1 | Portuguese-Amazonian | No | |
| F105fsX111 | 21 | Lebanese | Yes | |
| F108fsX113 | 2 | Portuguese (SA) | Yes | |
| Portuguese (SA) | No | |||
| R138X | 5 | Portuguese | Yes | |
| F213fsX231 | 1 | Indian | No | |
| Deletion 2/45 (4.5%) | del E4-E6 | 2 | Portuguese | Yes |
| Splice site 2/45 (4.5%) | 639/+1G-A | 1 | Turkish | Yes |
| deltaV99-S146 | ||||
| 1016/-3C->G | 1 | Turkish | Yes. | |
| F224deltaY225-Q271fsX288 | Severe developmental delay | |||
| Missense 5/45 (11%) | Ala112 Pro | 5 | Norwegian | Yes |
| Compound heterozygosity 4/45 (8.8%) | Ala 212 Pro/F 63 fsX 75 | 1 | Norwegian | Yes |
| F105fsX112/deletion E4-E6 | 1 | Portuguese (France) | Yes | |
| F63 fsX75/1015/+5G→A or splice (F224fsX225) | 2 | British | No |