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DOI: 10.1055/s-0040-1708844
Genetic Characterization of a Model Ciliopathy: Bardet–Biedl Syndrome
Funding None.![](https://www.thieme-connect.de/media/10.1055-s-00029027/202102/lookinside/thumbnails/10-1055-s-0040-1708844_2000002-1.jpg)
Abstract
Bardet–Biedl syndrome (BBS) is a rare ciliopathy affecting multiple organ systems. Patients with BBS are usually diagnosed later in childhood when clinical features of the disease become apparent. In this article, we presented a case of BBS discovered by whole genome sequencing in a newborn with heterotaxy, duodenal atresia, and complex congenital heart disease. Early diagnosis is important not only for prognostication but also to explore ways to mitigate the cone–rod dysfunction and for exploring newer therapies. Our case highlights the importance of a high index of suspicion and the utility of advanced genetic testing to provide an early diagnosis for a rare disease.
Keywords
Bardet–Biedl Syndrome - ciliopathies - whole genome sequencing - stem cell therapy - heterotaxy syndromeNote
Parental permission was obtained for publication.
Publikationsverlauf
Eingereicht: 06. Januar 2020
Angenommen: 13. Februar 2020
Artikel online veröffentlicht:
31. März 2020
© 2020. Thieme. All rights reserved.
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