We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Kidney failure in Bardet–Biedl syndrome.
- Authors
Meyer, Jennifer R.; Krentz, Anthony D.; Berg, Richard L.; Richardson, Jesse G.; Pomeroy, Jeremy; Hebbring, Scott J.; Haws, Robert M.
- Abstract
The aim of this study was to explore kidney failure (KF) in Bardet–Biedl syndrome (BBS), focusing on high‐risk 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 BBS10 the most predominant causal gene (26.6%), while disease penetrance was highest in SDCCAG8 (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‐like genes (p < 0.001), including TTC21B, a new candidate BBS gene. Median age of KF was 12.5 years, with the vast majority of KF occurring by 30 years (86.3%). Females were disproportionately affected (77.3%). Diverse uropathies were identified, but were not more common in the KF group (p = 0.672). 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‐like genes highlighting the value of comprehensive genetic investigation.
- Subjects
LAURENCE-Moon-Biedl syndrome; KIDNEY failure; GENETIC variation
- Publication
Clinical Genetics, 2022, Vol 101, Issue 4, p429
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.14119