Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.
Bottom Line: Triglyceride levels were significantly elevated in patients with homozygous truncating mutations (p = 0.048).The results are compared with clinical cardiovascular risk factors.This could contribute to stratification of the clinical service.
Affiliation: Molecular Medicine Unit, UCL Institute of Child Health, University College London, London, UK.Show MeSH
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Mentions: Of the remaining 69 patients seen in the clinic with a mutation in BBS1 or BBS10 the mean age was 28.25 (SD: 14.41, range: 0–59). The mean (SD) age of patients with a BBS1 mutation was 30.5 (15.6) years. In contrast the mean age (SD) of patients with a mutation in BBS10 was 22.32 (8.95) years (p = 0.034). Figure 2 illustrates the age distribution of patients with BBS1 and BBS10 included in this study. Twenty four (48%) patients with a mutation in BBS1 were female and 26 (52%) were male. Twelve (63.2%) patients with mutations in BBS10 were female and seven (36.8%) were male.
Affiliation: Molecular Medicine Unit, UCL Institute of Child Health, University College London, London, UK.