In our geographical region, there are two minority populations of genetic interest, mainly due to historically practicing inbreeding You already have the latest version installed. Error checking for updates, and having suffered genetic bottlenecks that have resulted in the founder effect in some diseases.

  • Mendelian diseases caused by private mutations with a founder effect in the Romani population.
DisorderOMIM*InheritanceMapGeneMutation
Location
Primary congenital231300AR2p21CYP1B1E387K
Glaucoma
Galactokinase230200AR17q24GK1P28T
Deficiency
Polycystic kidney173900AD4q21-q23PKD2R306X**
Disease
Hereditary motor and601455AR8q24NDRG1R148X
Sensory neuropathy-Lom
Hereditary motor and605285AR10q23
Sensory neuropathy-Russe
Congenital cataracts facial604168AR18qter
dysmorphism neuropathy
  • Reported carrier rates for single gene disorders among the Roma
DisorderCountryGeneralHigh-risk
Romagroups
Primary congenital glaucomaSlovakia5%*11%
GalactokinaseBulgaria2%*4%-5%
Deficiency
Autosomal dominant polycysticHungary2.4%
kidney disease
Hereditary motor and sensoryBulgaria*2%*20%
neuropathy-Lom
Limb-girdle muscular dystrophy**Bulgaria2%6%
type 2C
MCAD deficiency***Spain*2.5%-10%
PhenylketonuriaCzecho6%
slovakia
Oculocutaneous albinismSpain3.4%
Fraser syndromeSpain2.7%
Epidermolysis bullosaSpain2.4%
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1.
Kalaydjieva L, Gresham D, Calafell F. Genetic studies of the Roma (Gypsies): a review. BMC Med Genet [Internet]. 2001 Apr 2 [cited 2021 Apr 11];2:5. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC31389/

In addition to the previous conditions, a form of congenital myasthenia which is more common in the Gypsy population than in the general population, particularly the epsilon1267delG mutation in the epsilon subunit gene of the acetylcholine receptor (AChR).

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1.
Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horváth R, Mortier W, et al. A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin. Neurology. 1999 Oct 22;53(7):1564–9.

North African population.

The Moroccan Genetic Disease Database.