Exome sequencing identifies mutations in <i>LZTFL1</i>, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

Abstract excerpt

BACKGROUND: Bardet--Biedl Syndrome (BBS) is an emblematic recessive genetically highly heterogeneous ciliopathy characterised mainly by polydactyly, retinitis pigmentosa, obesity, cognitive impairment, and kidney dysfunction. The 16 BBS genes known to date are implied in the primary cilia related cellular pathways. METHODS AND RESULTS: Single nucleotide polymorphism (SNP) array analysis followed by exome...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cystic Fibrosis Research Advances
• Share to Genetic and Kidney Cyst Diseases
• Share to Hedgehog Signaling Pathway Studies