Shaheen et al. (2013) identified the genes associated with Meckel-Gruber syndrome (MKS) syndrome by studying 18 consanguineous Saudi families.  Members of these families were diagnosed with MKS based on the presence of occipital encephalocele as well as any combination of liver fibrosis, cleft palate, dysplastic kidneys, polydactyly and early lethality.  DNA from both affected and healthy members was obtained and an autozygome guided mutation analysis of known MKS genes was carried out.  When this did not uncover any mutations in some of the families, an exome sequencing was performed.  Exomes were then searched for compound heterozygous mutations in known MKS genes.  Failing that, all detected variants were filtered for homozygous novel changes within the autozygome.  This resulted in the detection of a c.7988_7989delGA (p.G2663Afs40) mutation in the C5orf42 gene in one of the affected families.