Homozygous mutation in <i>CEP19,</i> a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly

Abstract

<i>CEP19</i> encodes a centrosomal and ciliary protein, as all BBS genes do. Another truncating mutation p.Arg82* has been reported as responsible for morbid obesity in a family; however, in the family we present, not all homozygotes are obese, although some are severely obese. The variant in <i>GLI1</i>, encoding a transcription factor that localises to the primary cilium and nucleus and is a mediator of the sonic hedgehog pathway, possibly exacerbates disease severity when in the homozygous state.