{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:35:17Z","timestamp":1791333317864,"version":"4.3.1"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,4,8]],"date-time":"2014-04-08T00:00:00Z","timestamp":1396915200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["060653"],"award-info":[{"award-number":["060653"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:p>Bardet\u2013Biedl syndrome is a rare ciliopathy characterized by retinal dystrophy, obesity, intellectual disability, polydactyly, hypogonadism and renal impairment. Patients are at high risk of cardiovascular disease. Mutations in <jats:italic><jats:styled-content style=\"fixed-case\">BBS1<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">BBS10<\/jats:styled-content><\/jats:italic> account for more than half of those with molecular confirmation of the diagnosis. To elucidate genotype\u2013phenotype correlations with respect to cardiovascular risk indicators 50 patients with mutations in <jats:italic><jats:styled-content style=\"fixed-case\">BBS1<\/jats:styled-content><\/jats:italic> were compared with 19 patients harbouring <jats:italic><jats:styled-content style=\"fixed-case\">BBS10<\/jats:styled-content><\/jats:italic> mutations. All patients had truncating, missense or compound missense\/truncating mutations. The effect of genotype and mutation type was analysed. C\u2010reactive protein was higher in those with mutations in <jats:italic><jats:styled-content style=\"fixed-case\">BBS10<\/jats:styled-content><\/jats:italic> and homozygous truncating mutations (p\u2009=\u20090.013 and p\u2009=\u20090.002, respectively). Patients with mutations in <jats:italic><jats:styled-content style=\"fixed-case\">BBS10<\/jats:styled-content><\/jats:italic> had higher levels of C peptide than those with mutations in <jats:italic><jats:styled-content style=\"fixed-case\">BBS1<\/jats:styled-content><\/jats:italic> (p\u2009=\u20090.043). Triglyceride levels were significantly elevated in patients with homozygous truncating mutations (p\u2009=\u20090.048). Gamma glutamyl transferase was higher in patients with homozygous truncating mutations (p\u2009=\u20090.007) and heterozygous missense and truncating mutations (p\u2009=\u20090.002) than those with homozygous missense mutations. The results are compared with clinical cardiovascular risk factors. Patients with missense mutations in <jats:italic><jats:styled-content style=\"fixed-case\">BBS1<\/jats:styled-content><\/jats:italic> have lower biochemical cardiovascular disease markers compared with patients with <jats:italic><jats:styled-content style=\"fixed-case\">BBS10<\/jats:styled-content><\/jats:italic> and other <jats:italic><jats:styled-content style=\"fixed-case\">BBS1<\/jats:styled-content><\/jats:italic> mutations. This could contribute to stratification of the clinical service.<\/jats:p>","DOI":"10.1111\/cge.12373","type":"journal-article","created":{"date-parts":[[2014,3,10]],"date-time":"2014-03-10T14:16:14Z","timestamp":1394460974000},"page":"343-349","source":"Crossref","is-referenced-by-count":29,"title":["Genetic predictors of cardiovascular morbidity in Bardet\u2013Biedl syndrome"],"prefix":"10.1111","volume":"87","author":[{"given":"E.","family":"Forsythe","sequence":"first","affiliation":[{"name":"Molecular Medicine Unit, UCL Institute of Child Health University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Sparks","sequence":"additional","affiliation":[{"name":"National Bardet\u2010Biedl Syndrome Service Great Ormond Street Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.E.","family":"Hoskins","sequence":"additional","affiliation":[{"name":"National Bardet\u2010Biedl Syndrome Service Great 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