El-Sayed et al. (2009) undertook genome wide scanning in a large Pakistani family with the hypomaturation type of amelogenesis imperfecta and identified a mutation in the WDR72 gene to be causative for the condition. They further sequenced the WDR72 gene in nine other affected families, including two from Oman. One of the Omani families was found to have a point mutation in exon 17, c.2934G>A, which was predicted to result in a premature stop codon (p.W978X). A second Omani family was found to contain a deletion in the gene on exon 16 (c.2857Adel), predicted to result in a frameshift (p.S953VfsX20). Both these mutations were not identified in a set of 192 normal individuals of differing ethnic origins. No mutation could be identified in the remaining three Omani families. El-Sayed et al. (2009) conjectured that the WDR72 protein may play a role in vesicle turnover in maturation stage ameloblasts, a step necessary for maintaining their secretory functions.