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J Pediatr Genet 2021; 10(02): 126-130
DOI: 10.1055/s-0040-1708844
Case Report

Genetic Characterization of a Model Ciliopathy: Bardet–Biedl Syndrome

Samantha A. Kops
1   Department of Pediatrics, Banner University Medical Center, Arizona, United States
,
Ranjit I. Kylat 
1   Department of Pediatrics, Banner University Medical Center, Arizona, United States
2   Department of Pediatrics, University of Arizona College of Medicine, Arizona, United States
,
Shanti Bhatia
1   Department of Pediatrics, Banner University Medical Center, Arizona, United States
,
Michael D. Seckeler
1   Department of Pediatrics, Banner University Medical Center, Arizona, United States
2   Department of Pediatrics, University of Arizona College of Medicine, Arizona, United States
,
Brent J. Barber
1   Department of Pediatrics, Banner University Medical Center, Arizona, United States
2   Department of Pediatrics, University of Arizona College of Medicine, Arizona, United States
,
Mohammad Y. Bader
1   Department of Pediatrics, Banner University Medical Center, Arizona, United States
2   Department of Pediatrics, University of Arizona College of Medicine, Arizona, United States
› Author Affiliations Funding None.
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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 syndrome

Note

Parental permission was obtained for publication.




Publication History

Received: 06 January 2020

Accepted: 13 February 2020

Article published online:
31 March 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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