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Table 2 Mendelian disorders of the Roma caused by private founder mutations

From: Genetic studies of the Roma (Gypsies): a review

Disorder OMIM* Inheritance Map Gene Mutation Ref.
Primary congenital 231300 AR 2p21 CYP1B1 E387K 45,54
Galactokinase 230200 AR 17q24 GK1 P28T 44
Polycystic kidney 173900 AD 4q21-q23 PKD2 R306X** 90
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  
  1. * Using the OMIM numbers, detailed clinical information can be obtained at ** 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.