Autosomal recessive ethnical diseases of Czech Roma

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Cas Lek Cesk. 2006;145(7):557-60

Autosomal recessive ethnical diseases of Czech Roma

Seeman P, Siskova D.

Klinika detske neurologie, DNA laborator 2. LF UK a FNM, Praha.

Roma (Gypsy ethnic) form a genetically isolated ethnical group of the

identical origin with the world population of 10 to 14 millions

derived from a limited number of so-called founders. Majority (about

8 millions) of Roma ethnic live in Europe, namely at Balkan and in

the southwest of Europe.

Roma have specific hereditary diseases, namely those caused by

recessive genetic mutations. The molecular-genetic mechanism has been

recently elucidated and confirmed in several diseases of the Roma

population. Owing to the significant proportion of Roma in the

population, patients with those diseases are possible to meet also in

the Czech Republic.

However, the diagnostics of those diseases is frequently difficult

and they are often under diagnosed or misdiagnosed. The article gives

examples of autosomal recessive diseases, which can be confirmed at

the DNA level which occur in Roma population of the Czech Republic:

syndrome of congenital cataract, facial dysmorphism and demyelinating

neuropathy, non-syndromic prelingual deafness with GJB2 gene

impairment and the congenital myastenic syndrome.