Ask about this productRelated genes to: RPGR antibody
- Gene:
- RPGR NIH gene
- Name:
- retinitis pigmentosa GTPase regulator
- Previous symbol:
- CRD, RP3, RP15, COD1
- Synonyms:
- CORDX1
- Chromosome:
- Xp11.4
- Locus Type:
- gene with protein product
- Date approved:
- 1999-04-29
- Date modifiied:
- 2015-08-25
- Gene:
- RPGRIP1 NIH gene
- Name:
- RPGR interacting protein 1
- Previous symbol:
- RPGRIP
- Synonyms:
- RGI1, LCA6, CORD13
- Chromosome:
- 14q11.2
- Locus Type:
- gene with protein product
- Date approved:
- 2000-12-20
- Date modifiied:
- 2017-07-28
Related products to: RPGR antibody
Related articles to: RPGR antibody
- Infantile nystagmus syndrome (INS), the most prevalent form of nystagmus in children, often indicates underlying ocular and neurological conditions. Genetic assessment plays a crucial role in clinical management, genetic counseling, and access to emerging gene-based therapies. This study aims to characterize the clinical and genetic landscape of inherited ocular diseases (IODs) in children with INS. - Source: PubMed
Gong XiaomingBoydstun Ian PLawhon William THanna Nancy NWall Palak BFlickinger AaronHartmann E EugenieHertle Richard W - SPATA7, an early onset LCA3 retinal disease gene, encodes a putative scaffold protein that is essential for the proper assembly of the connecting cilium (CC) complex in photoreceptors. Previous studies have shown that SPATA7 interacts with other photoreceptor-specific ciliary proteins, such as RPGR and RPGRIP1, and maintains the integrity of CC integrity. However, although it is known that Spata7 is required for early formation of the CC, it is unclear if Spata7 is also required for the maintenance of the CC. To investigate Spata7 function in the retina at the adult stage, loss of function was induced in the adult retina upon tamoxifen induction of an inducible Spata7 knockout allele (Spata7; UbcCreERT2/). The phenotype of mutant retina was characterized by a combination of histology, immunobiochemistry, and electroretinography (ERG). Our results demonstrated that Spata7 is also essential for maintaining the integrity of the mature retinal CC. Loss of Spata7 in adults caused phenotypes similar to those seen in germline mutant mice, including photoreceptor cell degeneration and defective ERG responses. Close examination of the CC revealed significantly shortened NPHP1 length as a result of Spata7 deletion. Furthermore, mislocalization of rhodopsin, leading to ER stress-mediated apoptosis, was observed in the retinal layers. Our results indicate that Spata7 is required not only for the establishment but also for the maintenance of the CC of photoreceptors. - Source: PubMed
Publication date: 2022/04/02
Lu JiaxiongXiong KaitlynQian XinyeChoi JongsuShim Yoon-KyungBurnett JacobMardon GraemeChen Rui - encodes a ciliary protein expressed in the photoreceptor connecting cilium. Mutations in this gene cause ∼5% of Leber congenital amaurosis (LCA) worldwide, but are also associated with cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) phenotypes. Our purpose was to clinically characterize patients from our cohort, collect clinical data of additional patients reported previously in the literature, identify common clinical features, and seek genotype-phenotype correlations. Clinical data were collected from 16 patients of our cohort and 212 previously reported patients and included (when available) family history, best corrected visual acuity (BCVA), refraction, comprehensive ocular examination, optical coherence tomography (OCT) imaging, visual fields (VF), and full-field electroretinography (ffERG). Out of 228 patients, the majority (197, 86%) were diagnosed with LCA, 18 (7%) with RP, and 13 (5%) with CRD. Age of onset was during early childhood ( = 133, average of 1.7 years). All patients but 6 had moderate hyperopia ( = 59, mean of 4.8D), and average BCVA was 0.06 Snellen ( = 124; only 10 patients had visual acuity [VA] > 0.10 Snellen). On funduscopy, narrowing of blood vessels was noted early in life. Most patients had mild bone spicule-like pigmentation starting in the midperiphery and later encroaching upon the posterior pole. OCT showed thinning of the outer nuclear layer (ONL), while cystoid changes and edema were relatively rare. VF were usually very constricted from early on. ffERG responses were non-detectable in the vast majority of cases. Most of the mutations are predicted to be null (363 alleles), and 93 alleles harbored missense mutations. Missense mutations were identified only in two regions: the RPGR-interacting domain and the C2 domains. Biallelic null mutations are mostly associated with a severe form of the disease, whereas biallelic missense mutations usually cause a milder disease (mostly CRD). Our results indicate that biallelic mutations usually cause severe retinal degeneration at an early age with a cone-rod pattern. However, most of the patients exhibit preservation of some (usually low) BCVA for a long period and can potentially benefit from gene therapy. Missense changes appear only in the conserved domains and are associated with a milder phenotype. - Source: PubMed
Publication date: 2021/10/14
Beryozkin AvigailAweidah HamzahCarrero Valenzuela Roque DanielBerman MyriamIguzquiza OscarCremers Frans P MKhan Muhammad ImranSwaroop AnandAmer RadgondeKhateb SamerBen-Yosef TamarSharon DrorBanin Eyal - To identify the pathogenic variants associated with primary open-angle glaucoma (POAG) using whole-exome sequencing (WES) data of a large South Indian family. - Source: PubMed
Shah Mohd HussainKumaran ManojkumarChermakani PrakashKader Mohideen AbdulRamakrishnan RKrishnadas Subbiah RDevarajan BharanidharanSundaresan Periasamy - Leber congenital amaurosis (LCA) is the earliest onset and the most severe form of all inherited retinal degenerative disorders, characterized by blindness, or severe visual impairment from birth, and typically exhibits clinical and genetic heterogeneity. Recently, 14 causative genes of LCA were reported. We performed whole-exome sequencing (WES) for Japanese siblings, and identified a novel homozygous nonsense mutation in the RPGR-interacting protein 1 (RPGRIP1) gene. We also report their follow-up data over 27 years. - Source: PubMed
Publication date: 2020/07/31
Sato ShigeruMorimoto TakeshiTanaka SayakaHotta KikukoFujikado TakashiTsujikawa MotokazuNishida Kohji