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Pedigree from a Slovak family with hereditary hearing loss and beta-mannosidosis

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The square symbol is for men, the circle for women. Clinically affected members with hearing loss are filled-in black. The number inside the symbols represents the number of siblings with that sex and clinical status. * - indicates a patient with beta-mannosidosis diagnosed by biochemical and enzymatic examination. P - indicates the proband, the first affected family member referred for genetic examination. The proband was tested genetically for the MANBA c.2158-2A>G variant, and her homozygous state for this variant is indicated as c.2158- 2A>G/c.2158- 2A>G. (Source: Safka Brozkova D, Varga L, Uhrova Meszarosova A, et al. 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. Orphanet J Rare Dis 2020;15(1):222. Creative Commons Attribution 4.0 International License. Enlarged and edited by Douglas J Lanska MD MS MSPH to improve sharpness and contrast.)