As part of our study to identify genes for autosomal recessive intellectual disability in Pakistani families, we identified a homozygous nonsense mutation in the gene Tectonic-2 (TCTN2) segregating with the disorder in a single large family. The phenotype for this family suggested Joubert syndrome, as was confirmed by the indication of “molar tooth sign” in the brain by MRI. A homozygous splice site mutation and a homozygous frameshift mutation were also identified in single patients of Turkish and Indian origin respectively. These findings, together with the discovery of homozygous splice site mutations in the gene ATXN10 in another Joubert syndrome family, were reported together in a paper in the journal Cell, “Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways” (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3383065/).