Genetic studies of the Roma (Gypsies): a review

BMC Medical Genetics

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.

ISSN: 1471-2350