Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

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 feat...

Full description

Bibliographic Details
Main Authors: Elise Schaefer, Clarisse Delvallée, Laura Mary, Corinne Stoetzel, Véronique Geoffroy, Caroline Marks-Delesalle, Muriel Holder-Espinasse, Jamal Ghoumid, Hélène Dollfus, Jean Muller
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-01-01
Series:Frontiers in Genetics
Subjects:
Bardet-Biedl syndrome
IFT27 gene
BBS19
ciliopathy
whole exome sequencing
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00021/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2019.00021/full

Similar Items