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| GENATLAS PHENOTYPE |
| last update : 26-10-2018 |
| Symbol | CTPP2 |
| Location | 10q24.32 |
| HGNC id | 9006 |
| Name | cataract, posterior polar 2 |
| Other name(s) |
|
| Corresponding gene | PITX3 |
| Other symbol(s) | CTRCT11 |
| Main clinical features | cataract associated or not with anterior segment mesenchymal dysgenesis |
| Genetic determination | autosomal dominant |
| Function/system disorder | eye |
| Type | disease |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments |
| deletion
|
| truncated protein
| 542delC deletion resulting in a frameshift in codon 181 (PMID:21633712)
| |
| Remark(s) |
| Genotype/Phenotype correlations | homozygozity for the mutationassociated with a more severe phenotype, with in addition to posterior polar cataract, severe bilateral microphthalmia, blindness, a neurologic disorder characterized by mental retardation, choreiform movements, and increased muscle tone and decreased deep tendon reflexes of the lower extremities |