Bardet-Biedl syndrome

Definition:

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with genetic heterogeneity characterized by defects in multiple organ systems. The main features are retinal degeneration, obesity, hypogonadism, polydactyly, renal dysfunction, and mental retardation. BBS is typified by clinical variability observed both within and between families, which can be explained in part by the presence of second-site modifiers. Recent findings in genetic research have suggested that the BBS phenotype is largely associated with ciliary dysfunction.

References:

[1]. Anna Lindstrand, et al. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016 Aug 4;99(2):318-36. [Content Brief]

[2]. Annie P Chiang, et al. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc Natl Acad Sci U S A. 2006 Apr 18;103(16):6287-92. [Content Brief]

[3]. Carmen C Leitch, et al. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet. 2008 Apr;40(4):443-8. [Content Brief]

[4]. Corinne Stoetzel, et al. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet. 2006 May;38(5):521-4. [Content Brief]

[5]. Corinne Stoetzel, et al. BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. J Hum Genet. 2006;51(1):81-84. [Content Brief]

[6]. D Y Nishimura, et al. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet. 2001 Apr 1;10(8):865-74. [Content Brief]

[7]. Darryl Y Nishimura, et al. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet. 2005 Dec;77(6):1021-33. [Content Brief]

[8]. Elise Heon, et al. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Hum Mol Genet. 2016 Jun 1;25(11):2283-2294. [Content Brief]

[9]. Gail Billingsley, et al. Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. Ophthalmic Genet. 2012 Sep;33(3):150-4. [Content Brief]

[10]. José L Badano, et al. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet. 2003 Mar;72(3):650-8. [Content Brief]

[11]. Kinga M Bujakowska, et al. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet. 2015 Jan 1;24(1):230-42. [Content Brief]

[12]. Kirk Mykytyn, et al. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet. 2002 Aug;31(4):435-8. [Content Brief]

[13]. Mohammed A Aldahmesh, et al. IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. Hum Mol Genet. 2014 Jun 15;23(12):3307-15. [Content Brief]

[14]. N Katsanis, et al. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet. 2000 Sep;26(1):67-70. [Content Brief]

[15]. Nicholas Katsanis, et al. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am J Hum Genet. 2002 Jul;71(1):22-9. [Content Brief]

[16]. Nicholas Katsanis, et al. The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R65-71. [Content Brief]

[17]. Norann A Zaghloul, et al. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest. 2009 Mar;119(3):428-37. [Content Brief]

[18]. Sophie Scheidecker, et al. Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J Med Genet. 2014 Feb;51(2):132-6. [Content Brief]

[19]. Su Kyoung Kim, et al. Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. Science. 2010 Sep 10;329(5997):1337-40. [Content Brief]

[20]. Tina Duelund Hjortshøj, et al. Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients. Am J Med Genet A. 2008 Feb 15;146A(4):517-20. [Content Brief]

[21]. Vincent Marion, et al. Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. J Med Genet. 2012 May;49(5):317-21. [Content Brief]

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