{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T05:37:09Z","timestamp":1790660229191,"version":"4.1.0"},"reference-count":79,"publisher":"National Academy of Sciences","issue":"26","license":[{"start":{"date-parts":[[2020,12,17]],"date-time":"2020-12-17T00:00:00Z","timestamp":1608163200000},"content-version":"vor","delay-in-days":183,"URL":"https:\/\/www.pnas.org\/site\/aboutpnas\/licenses.xhtml"}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2020,6,30]]},"abstract":"<jats:p>\n                    RNA modifications play a fundamental role in cellular function. Pseudouridylation, the most abundant RNA modification, is catalyzed by the H\/ACA small ribonucleoprotein (snoRNP) complex that shares four core proteins, dyskerin (DKC1), NOP10, NHP2, and GAR1. Mutations in\n                    <jats:italic>DKC1<\/jats:italic>\n                    ,\n                    <jats:italic>NOP10<\/jats:italic>\n                    , or\n                    <jats:italic>NHP2<\/jats:italic>\n                    cause dyskeratosis congenita (DC), a disorder characterized by telomere attrition. Here, we report a phenotype comprising nephrotic syndrome, cataracts, sensorineural deafness, enterocolitis, and early lethality in two pedigrees: males with\n                    <jats:italic>DKC1<\/jats:italic>\n                    p.Glu206Lys and two children with homozygous\n                    <jats:italic>NOP10<\/jats:italic>\n                    p.Thr16Met. Females with heterozygous\n                    <jats:italic>DKC1<\/jats:italic>\n                    p.Glu206Lys developed cataracts and sensorineural deafness, but nephrotic syndrome in only one case of skewed X-inactivation. We found telomere attrition in both pedigrees, but no mucocutaneous abnormalities suggestive of DC. Both mutations fall at the dyskerin\u2013NOP10 binding interface in a region distinct from those implicated in DC, impair the dyskerin\u2013NOP10 interaction, and disrupt the catalytic pseudouridylation site. Accordingly, we found reduced pseudouridine levels in the ribosomal RNA (rRNA) of the patients. Zebrafish\n                    <jats:italic>dkc1<\/jats:italic>\n                    mutants recapitulate the human phenotype and show reduced 18S pseudouridylation, ribosomal dysregulation, and a cell-cycle defect in the absence of telomere attrition. We therefore propose that this human disorder is the consequence of defective snoRNP pseudouridylation and ribosomal dysfunction.\n                  <\/jats:p>","DOI":"10.1073\/pnas.2002328117","type":"journal-article","created":{"date-parts":[[2020,6,17]],"date-time":"2020-06-17T19:55:19Z","timestamp":1592423719000},"page":"15137-15147","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":54,"title":["Pseudouridylation defect due to\n                    <i>DKC1<\/i>\n                    and\n                    <i>NOP10<\/i>\n                    mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis"],"prefix":"10.1073","volume":"117","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2813-4759","authenticated-orcid":false,"given":"Eszter","family":"Balogh","sequence":"first","affiliation":[{"name":"MTA-SE Lend\u00fclet Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary;"},{"name":"First Department of Pediatrics, Semmelweis University, HU 1083 Budapest, Hungary;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9785-4528","authenticated-orcid":false,"given":"Jennifer C.","family":"Chandler","sequence":"additional","affiliation":[{"name":"Developmental Biology and Cancer Programme, University College London Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4289-1705","authenticated-orcid":false,"given":"M\u00e1t\u00e9","family":"Varga","sequence":"additional","affiliation":[{"name":"MTA-SE Lend\u00fclet Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary;"},{"name":"Department of Genetics, E\u00f6tv\u00f6s Lor\u00e1nd University, HU 1117 Budapest, Hungary;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona","family":"Tahoun","sequence":"additional","affiliation":[{"name":"Developmental Biology and Cancer Programme, University College London Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom;"},{"name":"Clinical and Chemical Pathology Department, Faculty of Medicine Alexandria University, EG 21500, Egypt;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00f3ra K.","family":"Menyh\u00e1rd","sequence":"additional","affiliation":[{"name":"MTA-ELTE Protein Modeling Research Group, E\u00f6tv\u00f6s Lor\u00e1nd University, HU 1117 Budapest, Hungary;"},{"name":"Laboratory of Structural Chemistry and Biology, E\u00f6tv\u00f6s Lor\u00e1nd University, HU 1117 Budapest, Hungary;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9512-3203","authenticated-orcid":false,"given":"Guszt\u00e1v","family":"Schay","sequence":"additional","affiliation":[{"name":"MTA-SE Lend\u00fclet Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary;"},{"name":"Department of Biophysics and Radiation Biology, Semmelweis University, HU 1085 Budapest, Hungary;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomas","family":"Goncalves","sequence":"additional","affiliation":[{"name":"Chromosome Maintenance Research Group, University College London Cancer Institute, WC1E 6DD London, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e1ta","family":"Hamar","sequence":"additional","affiliation":[{"name":"Department of Genetics, E\u00f6tv\u00f6s Lor\u00e1nd University, HU 1117 Budapest, Hungary;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5634-4000","authenticated-orcid":false,"given":"Regina","family":"L\u00e9gr\u00e1di","sequence":"additional","affiliation":[{"name":"MTA-SE Lend\u00fclet Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary;"},{"name":"First Department of Pediatrics, Semmelweis University, HU 1083 Budapest, Hungary;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1kos","family":"Szekeres","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics, Semmelweis University, HU 1083 Budapest, Hungary;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0238-8224","authenticated-orcid":false,"given":"Olivier","family":"Gribouval","sequence":"additional","affiliation":[{"name":"Laboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM, UMR 1163, Universit\u00e9 de Paris, FR 75015 Paris, 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