PRR12 Gene Mutations

Main Features

  • Neurodevelopmental impairment
  • Ocular abnormalities (see below)
  • Hypotonia

Eye Findings

  • microphthalmia (small eyes)
  • anophthalmia (absent eyes)
  • iris coloboma or stellate iris pattern
  • optic nerve anomalies
  • anterior segment dysgenesis, Peters anomaly
  • These findings may be unilateral or bilateral

Other Findings

  • Heart defects 50%
  • Growth failure 50%
  • Kidney anomalies 35%
  • Dysmorphic faces
  • Skeletal anomalies
  • Autism
  • Anxiety

Etiology

  • PRR12 gene loss-of-function mutations- frameshift, nonsense, splice-site or deletions

References

  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.