{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T18:46:03Z","timestamp":1791139563239,"version":"4.1.0"},"reference-count":25,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2012,4,11]]},"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Dyggve\u2013Melchior\u2013Clausen syndrome (DMC) is a chondrodysplasia that bears significant phenotypic resemblance to mucopolysaccharidosis type IV (Morquio disease). Autosomal recessive mutations in <jats:italic>DYM<\/jats:italic> are known to cause this disease through its role in Golgi organisation and intracellular traffic, but genetic heterogeneity is suspected.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>A family with DMC and normal intellectual development underwent clinical evaluation followed by autozygosity mapping and exome sequencing. Immunoblot and immunofluorescence analyses were performed to characterise the effect of the mutation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>This multiplex consanguineous family links to a novel locus on 4q31.1. Exome sequencing revealed a missense mutation in <jats:italic>RAB33B<\/jats:italic>, which encodes a Rab protein with an established role in retrograde Golgi traffic. The mutation qualitatively replaces the invariant lysine residue in the guanine nucleotide-binding domain of this small GTPase protein and leads to marked protein deficiency, making it the likely causative mutation of DMC in this family.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>This study identifies a new DMC gene and highlights the role of intracellular traffic in the pathogenesis of this disease.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmedgenet-2011-100666","type":"journal-article","created":{"date-parts":[[2012,5,31]],"date-time":"2012-05-31T21:21:13Z","timestamp":1338499273000},"page":"455-461","source":"Crossref","is-referenced-by-count":36,"title":["Mutation in <i>RAB33B<\/i>, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve\u2013Melchior\u2013Clausen locus"],"prefix":"10.1136","volume":"49","author":[{"given":"Muneera J","family":"Alshammari","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lefian","family":"Al-Otaibi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fowzan S","family":"Alkuraya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2012,5,31]]},"reference":[{"key":"2025101713133995000_49.7.455.1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.8.512"},{"key":"2025101713133995000_49.7.455.2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00286853"},{"key":"2025101713133995000_49.7.455.3","doi-asserted-by":"publisher","DOI":"10.1007\/s11832-009-0211-8"},{"key":"2025101713133995000_49.7.455.4","doi-asserted-by":"publisher","DOI":"10.1136\/adc.37.195.525"},{"key":"2025101713133995000_49.7.455.5","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1111\/j.1399-0004.1980.tb00887.x","article-title":"X-linked Dyggve-Melchior-Clausen syndrome","volume":"18","author":"Yunis","year":"1980","journal-title":"Clin Genet"},{"key":"2025101713133995000_49.7.455.6","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(78)90491-6"},{"key":"2025101713133995000_49.7.455.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.08.012"},{"key":"2025101713133995000_49.7.455.8","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg029"},{"key":"2025101713133995000_49.7.455.9","doi-asserted-by":"publisher","DOI":"10.1086\/346176"},{"key":"2025101713133995000_49.7.455.10","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0804259105"},{"key":"2025101713133995000_49.7.455.11","doi-asserted-by":"publisher","DOI":"10.1016\/S1534-5807(02)00157-0"},{"key":"2025101713133995000_49.7.455.12","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1002\/ajmg.a.31090","article-title":"Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia","volume":"140","author":"Neumann","year":"2006","journal-title":"Am J Med Genet A"},{"key":"2025101713133995000_49.7.455.13","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bti571"},{"key":"2025101713133995000_49.7.455.14","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20383"},{"key":"2025101713133995000_49.7.455.15","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181ceb95d"},{"key":"2025101713133995000_49.7.455.16","doi-asserted-by":"publisher","DOI":"10.1021\/bi00233a001"},{"key":"2025101713133995000_49.7.455.17","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.7.1814"},{"key":"2025101713133995000_49.7.455.18","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21413"},{"key":"2025101713133995000_49.7.455.19","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn371"},{"key":"2025101713133995000_49.7.455.20","unstructured":"Alberts B . Molecular Biology of the Cell. Garland Science, 2008. 5th edn. 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