{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:41:28Z","timestamp":1762004488012},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,4,30]],"date-time":"2013-04-30T00:00:00Z","timestamp":1367280000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>Mucopolysaccharidosis type VI (MPS VI) is a rare lysosomal, autosomal recessive storage disorder caused by deficient activity of <jats:italic>N<\/jats:italic>\u2010acetylgalactosamine\u20104\u2010sulfatase (ARSB). Approximately, 140 <jats:italic>ARSB<\/jats:italic> gene mutations have been identified; however, most are private mutations making genotype\u2013phenotype correlation for most MPS VI patients difficult. The aim of this study was to describe the natural clinical course in patients homozygous for the p.R152W mutation from eight unrelated families. From our database of 70 patients with MPS VI, we selected 10 patients homozygous for the p.R152W mutant allele (median age 27.5 years, range 18\u201338 years). We performed a cross\u2010sectional observational study characterizing the onset and prevalence of clinical manifestations. First signs of the disease, such as cardiac valve disease, slightly decreased joint range of motion and mild growth retardation, were observed in mid\u2010adolescent years (median 15 years). Within the disease course, the most common clinical feature in all the patients was progressive heart disease of predominantly valve origin leading to symptoms of heart failure. Other typical MPS VI features were subtle and not present in all the patients. Delays up to 23 years (median 8.5 years) intervened between symptom onset and disease diagnosis. Patients homozygous for the p.R152W mutation present a cardiac variant of MPS VI characterized by progressive cardiac valve disease leading to serious cardiac complications including abrupt death due to cardiac failure. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35905","type":"journal-article","created":{"date-parts":[[2013,4,30]],"date-time":"2013-04-30T15:46:57Z","timestamp":1367336817000},"page":"1291-1299","source":"Crossref","is-referenced-by-count":17,"title":["Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the <i>ARSB<\/i> gene"],"prefix":"10.1002","volume":"161","author":[{"given":"Agnieszka","family":"Jurecka","sequence":"first","affiliation":[{"name":"Department of Molecular Biology University of Gda\u0144sk Gda\u0144sk Poland"},{"name":"Department of Metabolic Diseases The Children's Memorial Health Institute Warsaw 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Belarus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Golda","sequence":"additional","affiliation":[{"name":"Department of Cardiology Gliwice General Hospital Gliwice Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Violetta","family":"Opoka\u2010Winiarska","sequence":"additional","affiliation":[{"name":"Department of Paediatric Pulmonology and Rheumatology Medical University of Lublin Lublin Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Piotrowska","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology University of Gda\u0144sk Gda\u0144sk Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Voskoboeva","sequence":"additional","affiliation":[{"name":"Department of Inherited Metabolic Diseases Research Center for Medical Genetic Moscow Russian 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