Symbol
| RP18
|
Location
| 1q21.1
|
HGNC id
| 10272
|
Name
|
retinitis pigmentosa 18 |
Corresponding gene
|
PRPF3
|
related resource
| Retinal Information Network
|
Main clinical features
|
characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment |
Genetic determination
| autosomal dominant |
Function/system disorder
| eye |
Type
| disease
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
missense
|  
|  
| missense mutation thr494met in a spanish patient, showing a mild retinitis pigmentosa phenotype, with the first symptoms (night blindness) at 40 years
| |
Remark(s)
|
mutation causes mislocalization of splicing factors and forms aggregates that can be detrimental to the photoreceptor cell
disruption of PRPF3 C-terminal region alters multiple interactions within U4/U6 snRNP particle resulting in the development of RP18 phenotype
mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing (PMID: 21378395))
mutations in pre-mRNA processing factor PRPF3 cause dysfunction of the retinal pigment epithelium (PMID: 25111227)) |