Table 2.
Mendelian disorders of the Roma caused by private founder mutations
| Disorder | OMIM* | Inheritance | Map | Gene | Mutation | Ref. |
| Location | ||||||
| Primary congenital | 231300 | AR | 2p21 | CYP1B1 | E387K | 45,54 |
| Glaucoma | ||||||
| Galactokinase | 230200 | AR | 17q24 | GK1 | P28T | 44 |
| Deficiency | ||||||
| Polycystic kidney | 173900 | AD | 4q21-q23 | PKD2 | R306X** | 90 |
| Disease | ||||||
| Hereditary motor and | 601455 | AR | 8q24 | NDRG1 | R148X | 37,39 |
| Sensory neuropathy-Lom | ||||||
| Hereditary motor and | 605285 | AR | 10q23 | 40 | ||
| Sensory neuropathy-Russe | ||||||
| Congenital cataracts facial | 604168 | AR | 18qter | 42 | ||
| dysmorphism neuropathy | ||||||
| Limb girdle muscular | 253700 | AR | 13q12 | SGCG | C283Y | 43,65, |
| dystrophy type 2C | 91 | |||||
| Congenital myasthenia | 254210 | AR | 17p13 | CHRNE | 1267delG | 46 |
| Glanzmann | 273800 | AR | 17q21 | ITGA2B | IVS15DS, | 64,92 |
| Thrombasthenia | G-A+1 |
* Using the OMIM numbers, detailed clinical information can be obtained at http://www3.ncbi.nlm.nih.gov/Omim/ ** The R306X mutation in PKD2 has been identified in Romani families from Bulgaria. It has not been confirmed in the Hungarian ADPKD families, but appears probable because of a reported common migration history of all affected groups.