====== 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====
  - 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.
  - 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.
  - 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.

{{tag>syndrome}}