| Symbol
| RP11
|
| Location
| 19q13.4
|
| HGNC id
| 10265
|
| Name
|
retinitis pigmentosa 11 |
| Corresponding gene
|
PRPF31
|
| related resource
| Retinal Information Network
|
| Main clinical features
|
the second most common ADRP locus (20%)
retinal dystrophy characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment |
| Genetic determination
| autosomal dominant |
| Related entries
| . including a subset of cases with reduced penetrance influenced by an allele at the RP11 locus or at a closely linked gene
|
| Function/system disorder
| eye |
| Type
| disease
|
| Name
| pre-mRNA processing factor 31 homolog
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| insertion-deletion
|
| haploinsufficiency
| premature stop-codon leading to truncated C-terminus, reduced rhodopsin expression and caused apoptosis of rhodopsin-positive retinal cells
| |
| Remark(s)
|
. three mutations (deletion/insertion type) in Spanish families leading to truncated protein
association between the AD29 mutant and snRNPs in the cell nucleus is significantly reduced; stability of the AD29 mutant is severely affected resulting in its rapid degradation (Huranova 2009)
mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing (PMID: 21378395))
a trans-acting factor (CNOT3) is a major nonpenetrance factor, and the apparently cis-acting effect arises due to the intimate linkage of CNOT3 and PRPF31 (linked trans-acting epistasis) (PMID: 24116917))
mutations in pre-mRNA processing factor PRPF31 cause dysfunction of the retinal pigment epithelium (PMID: 25111227))
major molecular cause of the incomplete penetrance is lnked to population variation in the number (3 or 4) of a minisatellite repeat element (MSR1) adjacent to the PRPF31 core promoter (PMID: 26781568)) |