ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal-recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated with pathogenic variants in known JBTS-associated genes. Combined autozygosity mapping of both families highlighted a candidate locus on chromosome 10 (chr10: 101569997 –109106128, UCSC Genome Browser hg 19), and exome sequencing revealed two missense variants in ARL3 within the candidate locus.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Sumaya Alkanderi, Elisa Molinari, Ranad Shaheen, Yasmin Elmaghloob, Louise A. Stephen, Veronica Sammut, Simon A. Ramsbottom, Shalabh Srivastava, George Cairns, Noel Edwards, Sarah J. Rice, Nour Ewida, Amal Alhashem, Kathryn White, Colin G. Miles, David H. Tags: Report Source Type: research