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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: 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

Fig. 1

Pedigrees. Pedigrees from Czech (CZ) and Slovak (SK) families – probands and detected variants are marked. The square symbol is for men, circle for women and clinically affected members with hearing loss are filled-in black, rhomb shape – unknown gender, the number in inside the symbols represents the number of siblings. Persons tested genetically for the MANBA c.2158-2A>G variant are indicated in pedigrees as c.2158-2A>G or wt – wildtype. * - Patients with beta-mannosidosis diagnosed by biochemical and enzymatic examination. P - indicates the proband, the first affected family member referred for genetic examination. The point in inside the symbol represents the carrier of the pathogenic variant. Given the complexity of family SK7 relationships, we present only the relevant part of the pedigree. The pedigree of family SK8 is missing, we only know that all three are from one family, either siblings or cousins

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