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Published on: June 3, 2020
Clinical variability of BBS1 across siblings
Vanna Giang1, Sarah R Weber2,3, Jeffrey M Sundstrom2,3
1Ophthalmology, Penn State College of Medicine, Hershey, Pennsylvania, USA vgiang@pennstatehealth.psu.edu.
Abstract:
Bardet-Biedl syndrome (BBS), an autosomal recessive ciliopathy with pleiotropic effects, manifests as a spectrum of anomalies involving multiple genes and affects fewer than 3,000 individuals in the USA. Due to its rarity and phenotypic variability, early diagnosis of BBS poses a significant challenge. Therefore, we aim to shed light on the intrafamilial phenotypic variation of BBS resulting from a BBS1 variant by delineating the clinical presentation in two siblings.
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