Bardet-Biedl syndrome [29 genes]

Bardet-Biedl syndrome is a hereditary disease with multisystem involvement and heterogeneous clinical presentation even among members of the same family. People with this ciliopathy present progressive visual impairment due to cone-rod dystrophy (94% cases), truncal obesity (89%), global developmental delay (66%), behavioral problems, and post-axial polydactyly (79%). Hypogonadism or genitourinary anomalies (59%), as well as chronic kidney failure (52%), also stand out. Other congenital malformations and minor characteristics have been well characterized.

The incidence varies between studies and populations but globally is between 1/45,000-150,000 newborns. It is the second most common cause of syndromic retinal dystrophy after Usher syndrome.

In the US, the estimated prevalence is 1/100,000. Epidemiological data in Europe are limited, but a prevalence has been estimated at 1/59,000 in Denmark and 1/45,000-66,000 on Reunion Island, France (ORPHA:110).

The high number of genes related to this syndrome and the difficulty in directing the study toward specific genes based on the phenotype or inheritance in the family makes an approach based on NGS, particularly exome-based, highly recommended as it is the most cost-efficient. Therefore, if there is a high suspicion of the disease, we recommend requesting this specific Bardet-Biedl syndrome panel.

The definitive genetic diagnosis facilitates a global assessment of the clinical picture, allows personalized follow-up to be initiated, and thus achieves an early diagnosis of possible associated comorbidities.

Service indicated when there is a high clinical suspicion that the patient may suffer from Bardet-Biedl syndrome.

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Bardet-Biedl syndrome

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Technique: Exome

Turnaround time (TAT):

Ref. S-202313094

Bardet-Biedl syndrome: View panel

Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes of high, moderate, and low evidence related to Bardet-Biedl syndrome based on current literature.

  • ARL6
  • BBIP1
  • BBS1
  • BBS10
  • BBS12
  • BBS2
  • BBS4
  • BBS5
  • BBS7
  • BBS9
  • CCDC28B
  • CDH23
  • CEP164
  • CEP290
  • C8orf37
  • FBN3
  • IFT172
  • IFT27
  • IFT74
  • LZTFL1
  • MKKS
  • MKS1
  • SCAPER
  • SCLT1
  • SDCCAG8
  • TMEM67
  • TRIM32
  • TTC8
  • WDPCP

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

Bardet-Biedl syndrome

References

  1. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {209900}: {04/20/2022}: . World Wide Web URL: https://omim.org/.
  2. Forsyth RL, Gunay-Aygun M. Bardet-Biedl Syndrome Overview. 2003 Jul 14 [Updated 2023 Mar 23]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1363/