PRR12 encodes a nuclear protein that is highly expressed in the brain and in the visual system. The exact function of this gene is unclear at this time.
Most of the reported mutations are apparently loss-of-function mutations. Twenty-five distinct PRR12 mutations have been reported including 15 frameshift, 6 nonsense, 2 splice-site, and 2 missense variants. In addition, a 3.4 Mb deletion in 19q13 including PRR12, generated through recombination during meiosis, was reported. One of the frameshift mutations was reported to be mosaic in one patient.
Almost all these mutations were identified as de novo, except for one frameshift mutation that was observed a patient and her daughter, both affected with unilateral microphthalmia. Haploinsufficiency of the PRR12 gene has been proposed to be the cause of PRR12-associated disorders.
Diagnostic testing
Mutations in PRR12 can be identified using molecular genetic testing, either directly by sequencing of the PRR12 gene, or by exome/genome/panel sequencing.