Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant.
Dana Safka-BrozkovaLukas VargaAnna Uhrova MeszarosovaZuzana SlobodovaMartina SkopkovaAndrea SoltysovaAndrej FicekJan JencikJana LastuvkovaDaniela GasperikovaPavel SeemanPublished in: Orphanet journal of rare diseases (2020)
Beta-mannosidosis, due to a homozygous c.2158-2A>G MANBA variant, is an important and previously unknown cause of hearing loss and mental retardation among Central European Roma.
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