| SPATA7-Associated Juvenile Retinitis Pigmentosa in Two Brothers from a Consanguineous Iraqi Family in Switzerland. | SPATA7-Associated Juvenile Retinitis Pigmentosa in Two Brothers from a Consanguineous Iraqi Family in Switzerland.
Yahya F, Escher P, Rivolta C, Scholl HP, Roulez F. | 05/17/2023 |
| Narrow arterioles, a relatively well-preserved macular region, and widespread retinal pigment epithelium atrophy resulting in diffuse mottling hypopigmentation in the midperipheral retina may be considered early and common fundus changes specific to SPATA7-associated retinopathy. | Spectrum, frequency, and genotype-phenotype of mutations in SPATA7.
Xiao X, Sun W, Li S, Jia X, Zhang Q., Free PMC Article | 06/20/2020 |
| Compound heterozygous c.1100A > G, p.(Y367C) and c.1102_1103delCT, p.(L368Efs*4) variants in SPATA7 manifest as an unusual RP phenotype in this case, showing extensive choroidal sclerosis and retinal pigment epithelium (RPE) atrophy with evidence of progression over two years on multimodal imaging. | Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.
Sengillo JD, Lee W, Bilancia CG, Jobanputra V, Tsang SH., Free PMC Article | 07/28/2018 |
| We present the clinical and genetic findings of two siblings harboring the c.1112T>C/p.I371T homozygous mutation in the SPATA7 gene. | Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family.
Feldhaus B, Kohl S, Hörtnagel K, Weisschuh N, Zobor D. | 06/30/2018 |
| The disease resulting from SPATA7 mutations in this patient initially presented as a cone-rod dystrophy (CRD), but changed over time into a phenotype more reminiscent of late-stage retinitis pigmentosa (RP). | SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.
Matsui R, McGuigan Iii DB, Gruzensky ML, Aleman TS, Schwartz SB, Sumaroka A, Koenekoop RK, Cideciyan AV, Jacobson SG., Free PMC Article | 11/11/2017 |
| SPATA7 plays a role in RPGRIP1-mediated protein trafficking across the connecting cilium of photoreceptor cells. Apoptotic degeneration of these cells triggered by protein mislocalization is a mechanism of disease progression in LCA3/juvenile RP patients | Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.
Eblimit A, Nguyen TM, Chen Y, Esteve-Rudd J, Zhong H, Letteboer S, Van Reeuwijk J, Simons DL, Ding Q, Wu KM, Li Y, Van Beersum S, Moayedi Y, Xu H, Pickard P, Wang K, Gan L, Wu SM, Williams DS, Mardon G, Roepman R, Chen R., Free PMC Article | 11/28/2015 |
| A novel homozygous large deletion in SPATA7 associated with juvenile retinitis pigmentosa has been found in a consanguineous Israeli Muslim Arab family. | Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family.
Mayer AK, Mahajnah M, Zobor D, Bonin M, Sharkia R, Wissinger B., Free PMC Article | 09/12/2015 |
| Digenic and triallelic mutations of CRB1 and SPATA7 were detected in a Chinese family with Leber congenital amaurosis. The results imply that CRB1 and SPATA7 may not interact with each other directly. | Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.
Li L, Xiao X, Li S, Jiao X, Hejtmancik JF, Zhang Q., Free PMC Article | 04/28/2012 |
| In conclusion, our data established the first linkage association of a loss-of-function mutation in the SPATA7 gene with a typical retinitis pigmentosa (RP) phenotype and not with leber congenital amaurosis or early onset RP. | Late onset retinitis pigmentosa.
Avila-Fernández A, Cortón M, López-Molina MI, Martín-Garrido E, Cantalapiedra D, Fernández-Sánchez R, Blanco-Kelly F, Riveiro-Álvarez R, Tatu SD, Trujillo-Tiebas MJ, García-Sandoval B, Ayuso C, Cremers FP. | 01/28/2012 |
| Mutations in SPATA7 are a rare cause of childhood retinal dystrophy accounting for 1.7% of disease in this cohort. | Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT. | 07/23/2011 |
| analysis of the SPATA7 mutations in Leber congenital amaurosis and the associated phenotype | Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Perrault I, Hanein S, Gerard X, Delphin N, Fares-Taie L, Gerber S, Pelletier V, Mercé E, Dollfus H, Puech B, Defoort-Dhellemmes S, Petersen MD, Zafeiriou D, Munnich A, Kaplan J, Roche O, Rozet JM. | 10/30/2010 |
| Spata7 is expressed in the mature mouse retina. | Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
Wang H, den Hollander AI, Moayedi Y, Abulimiti A, Li Y, Collin RW, Hoyng CB, Lopez I, Abboud EB, Al-Rajhi AA, Bray M, Lewis RA, Lupski JR, Mardon G, Koenekoop RK, Chen R., Free PMC Article | 01/21/2010 |
| isolation and characterization of HSD-3.1 expressed in the testis | A novel gene, RSD-3/HSD-3.1, encodes a meiotic-related protein expressed in rat and human testis.
Zhang X, Liu H, Zhang Y, Qiao Y, Miao S, Wang L, Zhang J, Zong S, Koide SS. | 01/21/2010 |