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prr12_gene_mutations [2025/11/11 18:40] – created Scott Larsonprr12_gene_mutations [2025/11/11 18:49] (current) – Scott Larson
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------PRR12 gene mutations----- +====== 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.  + 
 +====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 
      
-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]   + ====Other Findings==== 
-   +  * Heart defects 50% 
-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]   +  * Growth failure 50% 
-   +  * Kidney anomalies 35% 
-   +  * Dysmorphic faces 
-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?   +  * Skeletal anomalies 
-   +  * Autism 
-### References+  * 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.
  
-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. +{{tag>syndrome}}
-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.+