Title :

Identification and characterization o known biallelic mutations in the ift27 (bbs19) gene in a novel family with bardet-biedl syndrome

Author(s) :

Schaefer, Elise [Auteur]
Delvallee, Clarisse [Auteur]
Mary, Laura [Auteur]
Stoetzel, Corinne [Auteur]
Geoffroy, Veronique [Auteur]
Marks-Delesalle, Caroline [Auteur]
Holder-Espinasse, Muriel [Auteur]
Ghoumid, Jamal [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Dollfus, Helene [Auteur]
Muller, Jean [Auteur]

Journal title :

Frontiers in Genetics

Abbreviated title :

Front. Genet.

Volume number :

10

Publication date :

2019-01-30

ISSN :

1664-8021

Keyword(s) :

whole exome sequencing
ciliopathy
BBS19
IFT27 gene
Bardet-Biedl syndrome

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Bardet-Biedl syndrome (BBS; MIM 209900) is a rare ciliopathy characterized by retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, cognitive impairment and kidney dysfunction. Mutations in 22 BBS genes have ...
Show more >Bardet-Biedl syndrome (BBS; MIM 209900) is a rare ciliopathy characterized by retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, cognitive impairment and kidney dysfunction. Mutations in 22 BBS genes have been identified to cause the disease. We report a family with typical BBS features (retinitis pigmentosa, postaxial polydactyly, obesity, cognitive impairment, and atrioventricular septal defect) mutated in IFT27/BBS19IFT27IFT27BBS19IFT27, IFT172IFT74Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille

Collections :

• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Submission date :

2021-09-02T07:01:56Z