BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

Autors de IIS La Fe

• 

  José María Millán Salvador

  Autor

Autors aliens a IIS La Fe

• Deveault C
• Billingsley G
• Duncan JL
• Bin J
• Theal R
• Vincent A
• Fieggen KJ
• Gerth C
• Noordeh N
• Traboulsi EI
• Fishman GA
• Chitayat D
• Knueppel T
• Munier FL
• Kennedy D
• Jacobson SG
• Innes AM
• Mitchell GA
• Boycott K
• Héon E

Grups d'Investigació

• Biomedicina Molecular, Celular y Genómica

  

  Leader

  José María Millán Salvador

Abstract

Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal abnormalities, and cognitive impairment for which 15 causative genes have been identified. Here we present the results of a mutational analysis of our multiethnic cohort of 83 families (105 cases); 75.9% of them have their mutations identified including 26 novel changes. Comprehensive phenotyping of these patients demonstrate that the spectrum of clinical features is greater than expected and overlapped with the features of other ciliopathies; specifically Alström and McKusick-Kauffman syndromes.