A case of Bardet‑Biedl syndrome caused by a recurrent variant in <em>BBS12</em>: A case report

Focșa,Ina Ofelia; Budișteanu,Magdalena; Burloiu,Carmen; Khan,Sheraz; Sadeghpour,Azita; Bohîlțea,Laurențiu C.; Davis,Erica E.; Bălgrădean,Mihaela

doi:10.3892/br.2021.1479

A case of Bardet‑Biedl syndrome caused by a recurrent variant in BBS12: A case report

Authors:
- Ina Ofelia Focșa
- Magdalena Budișteanu
- Carmen Burloiu
- Sheraz Khan
- Azita Sadeghpour
- Laurențiu C. Bohîlțea
- Erica E. Davis
- Mihaela Bălgrădean
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Affiliations: Department of Medical Genetics, University of Medicine and Pharmacy ‘Carol Davila’, 021901 Bucharest, Romania, Department of Pediatric Neurology, ‘Prof. Dr. Alexandru Obregia’ Clinical Hospital of Psychiatry, 041914 Bucharest, Romania, National Institute for Biotechnology and Genetic Engineering (NIBGE‑C), Faisalabad, Pakistan Institute of Engineering and Applied Sciences, Islamabad 38000, Pakistan, Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA, Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA, Department of Pediatrics and Pediatric Nephrology, Emergency Clinical Hospital for Children ‘Maria Skłodowska Curie’, 077120 Bucharest, Romania
Published online on: October 21, 2021 https://doi.org/10.3892/br.2021.1479
Article Number: 103
Copyright: © Focșa et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Bardet‑Biedl syndrome (BBS) is a clinically and genetically heterogenous disorder that manifests as a result of primary cilia impairment. Cilia are present on most cell types, thus BBS is a multisystemic condition involving the majority of organ systems. The core features of the syndrome include retinal degeneration, obesity, polydactyly, cognitive impairment, renal anomalies and urogenital malformations. To date, pathogenic variants in 26 genes have been shown to be involved in the molecular basis of this rare ciliopathy. Of these causal loci, BBS12 accounts for ~8% of all cases. In this case report, an individual with BBS caused by a rare recurrent variant in BBS12 (NM_152618.3: c.1063C>T; p.Arg355*) is described and compared with others with the same DNA variant, placing this finding in the context of the current literature.

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