{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T00:34:23Z","timestamp":1791506063715,"version":"4.3.4"},"reference-count":67,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,3,13]],"date-time":"2022-03-13T00:00:00Z","timestamp":1647129600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The aim of this study was to explore kidney failure (KF) in Bardet\u2013Biedl syndrome (BBS), focusing on high\u2010risk gene variants, demographics, and morbidity. We employed the Clinical Registry Investigating BBS (CRIBBS) to identify 44 (7.2%) individuals with KF out of 607 subjects. Molecularly confirmed BBS was identified in 37 KF subjects and 364 CRIBBS registrants. KF was concomitant with recessive causal variants in 12 genes, with\n                    <jats:italic>BBS10<\/jats:italic>\n                    the most predominant causal gene (26.6%), while disease penetrance was highest in\n                    <jats:italic>SDCCAG8<\/jats:italic>\n                    (100%). Two truncating variants were present in 67.6% of KF cases. KF incidence was increased in genes not belonging to the BBSome or chaperonin\u2010like genes (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.001), including\n                    <jats:italic>TTC21B<\/jats:italic>\n                    , a new candidate BBS gene. Median age of KF was 12.5\u2009years, with the vast majority of KF occurring by 30\u2009years (86.3%). Females were disproportionately affected (77.3%). Diverse uropathies were identified, but were not more common in the KF group (\n                    <jats:italic>p<\/jats:italic>\n                    \u00a0=\u00a00.672). Kidney failure was evident in 11 of 15 (73.3%) deaths outside infancy. We conclude that KF poses a significant risk for premature morbidity in BBS. Risk factors for KF include female sex, truncating variants, and genes other than BBSome\/chaperonin\u2010like genes highlighting the value of comprehensive genetic investigation.\n                  <\/jats:p>","DOI":"10.1111\/cge.14119","type":"journal-article","created":{"date-parts":[[2022,2,3]],"date-time":"2022-02-03T03:14:37Z","timestamp":1643858077000},"page":"429-441","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":44,"title":["Kidney failure in\n                    <scp>Bardet<\/scp>\n                    \u2013\n                    <scp>Biedl<\/scp>\n                    syndrome"],"prefix":"10.1111","volume":"101","author":[{"given":"Jennifer R.","family":"Meyer","sequence":"first","affiliation":[{"name":"School of Medicine and Public Health University of Wisconsin  Madison Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony 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