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...

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Bibliographic Details

Published in:	Frontiers in Genetics
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
Subjects:	Bardet-Biedl syndrome IFT27 gene BBS19 ciliopathy whole exome sequencing
Online Access:	https://www.frontiersin.org/article/10.3389/fgene.2019.00021/full