We report a 10-year-old girl with Bardet-Biedl syndrome caused by a novel mutation in the Bardet-Biedl syndrome 10 (BBS10) gene. She had multiple malformations, including a dysmorphic face, postaxial polydactyly, polycystic kidney and amblyopia. She presented with typical BBS features, including intellectual disability with emotional outbursts and mild obesity. Whole-exome sequencing identified compound heterozygous mutations with NM-024685.3:c.1677C>A [p.(Tyr559∗)] and c.1974T>G [p.(Tyr658∗)]. To our knowledge, the latter mutation has never been reported previously.
ASJC Scopus subject areas
- Molecular Biology