Recombinant Human Retinitis pigmentosa 1-like 1 protein (RP1L1), partial

1. the presence of pathogenic RP1L1 variants is significantly associated with characteristic abnormalities of the photoreceptor layer in the macular region (e.g., blurring of the ellipsoid zone [EZ] and absence of the interdigitation zone PMID: 29196766
2. We propose that the combination of heterozygous loss-of-function mutations in these genes drives syndromic retinal dystrophy, likely through the genetic interaction of at least two loci. PMID: 27029556
3. A unique motif including six amino acids (1196-1201) downstream of the doublecortin domain could be a hot spot for RP1L1 pathogenic variants. The significant association of the morphologic phenotypes and genotypes indicates that there are two types of pathophysiology underlying the occult macular dysfunction syndrome PMID: 27623337
4. A p.Arg45Trp mutation in the RP1L1 gene was identified in the Occult macular dystrophy patient, in the two symptomatic offspring and also in two of the asymptomatic siblings of the patient. PMID: 26782618
5. findings indicate that a homozygous p.S1210P exchange in the RP1L1 gene can cause cone dystrophy PMID: 25692141
6. We describe in detail a case of bilateral chronic subfoveal serous retinal detachment in an atypical occult macular dystrophy patient carrying a novel heterozygous RP1L1 mutation (p.S1199P) PMID: 24838559
7. Occult macular dystrophy is a genetically heterogeneous disorder in a white family of European descent, screened for genetic mutations in the RP1L1 gene. PMID: 23229695
8. These findings indicate that the phenotype in some cases of occult macular dystrophy with an Arg45Trp mutation in the RP1L1 gene can be unilateral for a considerable period. PMID: 23619761
9. Our study revealed that the previously identified mutation in the retinitis pigmentosa 1L1 gene from Japanese families, R45W3, also was found in Korean occult macular degeneration patients. PMID: 23745001
10. RP1L1 mutations are associated with retinal diseases, including retinitis pigmentosa and occult macular dystrophy. PMID: 23281133
11. The clinical phenotypes differed between the proband and her mother and were indistinguishable from other sporadic or RP1L1-unassociated OMD patients, suggesting that mutation-dependent clinical features may not be present. PMID: 22504327
12. The abnormalities in the multifocal electroretinograms and optical coherence tomography observed in the occult macular dystrophy patients of different durations strongly support the contribution of RP1L1 mutation to the presence of this disease. PMID: 22466457
13. Amino acid substitution of p.Arg45Trp in retinitis pigmentosa 1-like 1 (RP1L1) was found in three occult macular dystrophy (OMD)families and p.Trp960Arg in a remaining OMD family. PMID: 20826268
14. The RP1L1 gene encodes a large, highly polymorphic, retinal-specific protein. No RP1L1 disease-causing mutations were identified in any of the samples tested. PMID: 12724644

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HGNC: 15946

OMIM: 608581

KEGG: hsa:94137

STRING: 9606.ENSP00000371923

UniGene: Hs.33538