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Since 1986, only 23 patients with beta-mannosidosis and biallelic\n                      <jats:italic>MANBA<\/jats:italic>\n                      variants have been described worldwide.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We now report on further 10 beta-mannosidosis patients of Roma origin from eight families in the Czech and Slovak Republics with hearing loss, mental retardation and homozygous pathogenic variants in\n                      <jats:italic>MANBA<\/jats:italic>\n                      .\n                    <\/jats:p>\n                    <jats:p>\n                      <jats:italic>MANBA<\/jats:italic>\n                      variant c.2158-2A&gt;G screening among 345 anonymized normal hearing controls from Roma populations revealed a carrier\/heterozygote frequency of 3.77%. This is about 925 times higher than the frequency of this variant in the gnomAD public database and classifies the c.2158-2A&gt;G variant as a prevalent, ethnic-specific variant causing hearing loss and mental retardation in a homozygous state. The frequency of heterozygotes\/carriers is similar to another pathogenic variant c.71G&gt;A (p.W24*) in\n                      <jats:italic>GJB2<\/jats:italic>\n                      , regarded as the most frequent variant causing deafness in Roma populations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conlcusion<\/jats:title>\n                    <jats:p>\n                      Beta-mannosidosis, due to a homozygous c.2158-2A&gt;G\n                      <jats:italic>MANBA<\/jats:italic>\n                      variant, is an important and previously unknown cause of hearing loss and mental retardation among Central European Roma.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-020-01508-3","type":"journal-article","created":{"date-parts":[[2020,8,26]],"date-time":"2020-08-26T00:12:03Z","timestamp":1598400723000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Variant c.2158-2A&gt;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"],"prefix":"10.1186","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0572-7239","authenticated-orcid":false,"given":"Dana","family":"Safka Brozkova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lukas","family":"Varga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Uhrova Meszarosova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zuzana","family":"Slobodova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Skopkova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Soltysova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrej","family":"Ficek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Jencik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Lastuvkova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Gasperikova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pavel","family":"Seeman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,8,26]]},"reference":[{"issue":"19","key":"1508_CR1","doi-asserted-by":"publisher","first-page":"1201","DOI":"10.1056\/NEJM198611063151906","volume":"315","author":"DA Wenger","year":"1986","unstructured":"Wenger DA, Sujansky E, Fennessey PV, Thompson JN. 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