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GENATLAS PHENOTYPE
last update : 02-11-2016
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
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
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))