Genetic testing for Bardet-Biedl syndrome

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Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Bardet- Biedl syndrome (BBS). The disease has autosomal recessive inheritance, a prevalence varying from one in 13 500 to one in 160 000, and is caused by mutations in the ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CEP290, IFT172, IFT27, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TRIM32, TTC8 and WDPCP genes. The clinical diagnosis of BBS is based on four primary features or three primary features plus two secondary features. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

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  • 1. Forsythe E Beales PL. Bardet-Biedl Syndrome. In: RA Pagon MP Adam HH Ardinger SE Wallace A Amemiya LJH Bean et al. editors. GeneReviews(R). Seattle (WA) 1993.

  • 2. Forsythe E Beales PL. Bardet-Biedl syndrome. Eur J Hum Genet. 2013 Jan; 21(1):8-13. doi:

    • Crossref
    • Export Citation
  • 3. Moore SJ Green JS Fan Y Bhogal AK Dicks E Fernandez BA et al. Clinical and genetic epidemiology of Bardet Biedl syndrome in Newfoundland: a 22 year prospective population based cohort study. Am J Med Genet A. 2005 Feb 1; 132A (4):352-60. PubMed PMID: 15637713; PubMed Central PMCID: PMC3295827.

  • 4. Deveault C Billingsley G Duncan JL Bin J Theal R Vincent A et al. BBS genotype phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat. 2011 Jun; 32(6):610-9. doi:

    • Crossref
    • Export Citation
  • 5. Beales PL Elcioglu N Woolf AS Parker D Flinter FA. New criteria for improved diagnosis of BardetBiedl syndrome: results of a population survey. J Med Genet. 1999 Jun; 36(6):437-46. PubMed PMID: 10874630; PubMed Central PMCID: PMC1734378.

  • 6. Elbedour K Zucker N Zalzstein E Barki Y Carmi R. Cardiac abnormalities in the Bardet Biedl syndrome: echocardiographic studies of 22 patients. Am J Med Genet. 1994 Aug 15; 52(2):164-9. Review. PubMed PMID: 7802002.

  • 7. Baker K Beales PL. Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet. 2009 Nov 15; 151C (4):281-95. doi:

    • Crossref
    • Export Citation
  • 8. Beales PL Katsanis N Lewis RA Ansley SJ Elcioglu N Raza J et al. Genetic and mutational analyses of a large multiethnic Bardet Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Am J Hum Genet. 2001 Mar; 68(3):606-16. Epub 2001 Feb 1. Erratum in: Am J Hum Genet 2001 Oct; 69(4):922. PubMed PMID: 11179009; PubMed Central PMCID: PMC1274474.

  • 9. Lindstrand A Davis EE Carvalho CM Pehlivan D Willer JR Tsai IC et al. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May 1; 94(5):745-54. doi:

    • Crossref
    • Export Citation
  • 10. Katsanis N. The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R65-71. Epub 2004 Feb 19. Review. PubMed PMID: 14976158.

  • 11. Abu-Safieh L Al-Anazi S Al-Abdi L Hashem M Alkuraya H Alamr M Sirelkhatim MO Al-Hassnan Z Alkuraya B Mohamed JY Al-Salem A Alrashed M Faqeih E Softah A Al-Hashem A Wali S Rahbeeni Z Alsayed M Khan AO Al-Gazali L Taschner PE Al-Hazzaa S Alkuraya FS. In search of triallelism in Bardet-Biedl Syndrome. Eur J Hum Genet. 2012 Apr;20(4):420-7.

  • 12. Chen B Gagnon M Shahangian S Anderson NL Howerton DA Boone JD. Good Laboratoty Practices for Molecular Genetic Testing for Heritable Diseases and Conditions. MMWR Recomm Rep. 2009 Jun 12; 58 (RR-6):1-29. PubMed PMID: 19521335.

  • 13. Stone EM Aldave AJ Drack AV Maccumber MW Sheffield VC Traboulsi E et al. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing Ophthalmology. 2012 Nov; 119(11):2408-10. doi:

    • Crossref
    • Export Citation
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