Abstract
Bardet–Biedl syndrome is a rare autosomal recessive multisystem disorder caused by defects in genes encoding for proteins that localize to the primary cilium/basal body complex. Twenty-one disease-causing genes have been identified to date. It is one of the most well-studied conditions in the family of diseases caused by defective cilia collectively known as ciliopathies. In this review, we provide an update on diagnostic developments, clinical features, and progress in the management of Bardet–Biedl syndrome. Advances in diagnostic technologies including exome and whole genome sequencing are expanding the spectrum of patients who are diagnosed with Bardet–Biedl syndrome and increasing the number of cases with diagnostic uncertainty. As a result of the diagnostic developments, a small number of patients with only one or two clinical features of Bardet–Biedl syndrome are being diagnosed. Our understanding of the syndrome-associated renal disease has evolved and is reviewed here. Novel interventions are developing at a rapid pace and are explored in this review including genetic therapeutics such as gene therapy, exon skipping therapy, nonsense suppression therapy, and gene editing. Other non-genetic therapies such as gene repurposing, targeted therapies, and non-pharmacological interventions are also discussed.
Highlights
INTRODUCTIONBardet–Biedl syndrome (BBS), sometimes known as Laurence–Moon–Bardet-Biedl syndrome, is a rare autosomal recessive ciliopathy characterized by rod-cone dystrophy, learning difficulties, polydactyly, obesity, genital malformations, and renal abnormalities
Bardet–Biedl syndrome (BBS), sometimes known as Laurence–Moon–Bardet-Biedl syndrome, is a rare autosomal recessive ciliopathy characterized by rod-cone dystrophy, learning difficulties, polydactyly, obesity, genital malformations, and renal abnormalities.In the 1880s, a family with retinitis pigmentosa, obesity, and intellectual impairment was described by doctors Laurence and Moon
From 1925, the syndrome was known as Laurence–Moon–Bardet–Biedl syndrome, but there was disagreement as to whether they were the same entity
Summary
Bardet–Biedl syndrome (BBS), sometimes known as Laurence–Moon–Bardet-Biedl syndrome, is a rare autosomal recessive ciliopathy characterized by rod-cone dystrophy, learning difficulties, polydactyly, obesity, genital malformations, and renal abnormalities. In 1920 and 1922, respectively, doctors Bardet and Biedl independently described two families with obesity, retinitis pigmentosa, and polydactyly. From 1925, the syndrome was known as Laurence–Moon–Bardet–Biedl syndrome, but there was disagreement as to whether they were the same entity Later, it was considered as two entities, Laurence–Moon and Bardet–Biedl syndromes, but mutations in known BBS genes have been seen in families with both syndromes [1, 2]. It was considered as two entities, Laurence–Moon and Bardet–Biedl syndromes, but mutations in known BBS genes have been seen in families with both syndromes [1, 2] Today, it is most usually known as BBS. The genes that cause BBS can cause other ciliopathies, with the classic example being CEP290, which can cause Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, and Senior-Loken syndrome in addition to BBS [8]
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