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.

Kalaydjieva et al. BMC Medical Genetics 2001 2:5   doi:10.1186/1471-2350-2-5

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