PRR12 Gene Mutations

are associated with a spectrum of structural eye abnormalities, most commonly including microphthalmia (small eyes), anophthalmia (absent eyes), iris coloboma, optic nerve anomalies, and other anterior segment dysgenesis. These findings may be unilateral or bilateral and can occur in isolation or as part of a multisystem neurodevelopmental disorder. Studies have shown that approximately half of individuals with PRR12 haploinsufficiency present with variable eye defects, such as anophthalmia, microphthalmia, colobomas (including iris coloboma), and optic nerve and iris abnormalities.[1] Additional reports highlight stellate iris patterns and iris coloboma as consistent features among affected patients.[2] Some cases present with complex microphthalmia and Peters anomaly, and the ocular phenotype can be asymmetric or even unilateral, with the contralateral eye appearing structurally normal.[3] In summary, PRR12 mutations most frequently cause microphthalmia, anophthalmia, iris coloboma, and other anterior segment and optic nerve abnormalities**, with considerable variability in severity and laterality.[1][2][3]

Would you like me to summarize the latest genotype-phenotype correlation studies for PRR12 mutations, focusing on whether specific mutation types predict particular ocular or systemic features?

1. Haploinsufficiency of PRR12 Causes a Spectrum of Neurodevelopmental, Eye, and Multisystem Abnormalities. Chowdhury F, Wang L, Al-Raqad M, et al. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 2021;23(7):1234-1245. doi:10.1038/s41436-021-01129-6. 2. De Novo Apparent Loss-of-Function Mutations in PRR12 in Three Patients With Intellectual Disability and Iris Abnormalities. Leduc MS, Mcguire M, Madan-Khetarpal S, et al. Human Genetics. 2018;137(3):257-264. doi:10.1007/s00439-018-1877-0. 3. Dominant Variants in PRR12 Result in Unilateral or Bilateral Complex Microphthalmia. Reis LM, Costakos D, Wheeler PG, et al. Clinical Genetics. 2021;99(3):437-442. doi:10.1111/cge.13897.