Gene: RS1
Alternate names for this Gene: RS|XLRS1
Gene Summary: This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision.
Gene is located in Chromosome: X
Location in Chromosome : Xp22.13
Description of this Gene: retinoschisin 1
Type of Gene: protein-coding
Gene: CDKL5
Alternate names for this Gene: CFAP247|DEE2|EIEE2|ISSX|STK9
Gene Summary: This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized.
Gene is located in Chromosome: X
Location in Chromosome : Xp22.13
Description of this Gene: cyclin dependent kinase like 5
Type of Gene: protein-coding
rs866859766 in
RS1;CDKL5 gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
PMID 15492925 2004 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
PMID 23662938 2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
PMID 16015284 2005 Early onset seizures and Rett-like features associated with mutations in CDKL5.
PMID 15917271 2005 CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
PMID 15499549 2004 Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.
PMID 19241098 2009 Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.
PMID 19253388 2009 A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.
PMID 12736870 2003 Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.
PMID 17993579 2008 Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.
PMID 18790821 2008 Key clinical features to identify girls with CDKL5 mutations.
PMID 16935860 2006 Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation.
PMID 16611748 2006 CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
PMID 15689447 2005 CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.
PMID 24564546 2014 Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.
PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
PMID 18809835 2008 CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
rs104894928 in
RS1;CDKL5 gene and
RETINOSCHISIS 1, X-LINKED, JUVENILE
PMID 10234514 1999 Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.
PMID 27798099 2016 Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
PMID 9760195 1998 Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.
PMID 19849666 2009 Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.
PMID 17304551 2007 X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.
PMID 19093009 2008 Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
PMID 9326935 1997 Positional cloning of the gene associated with X-linked juvenile retinoschisis.
PMID 17615541 2007 Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.
PMID 10533068 1999 Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
PMID 10079181 1999 Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.
PMID 17631851 2007 Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.
PMID 10220153 1999 Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.
PMID 10450864 1999 Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.
PMID 9618178 1998 Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.
PMID 20061330 2010 Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
PMID 26356828 2015 Detailed Morphological Changes of Foveoschisis in Patient with X-Linked Retinoschisis Detected by SD-OCT and Adaptive Optics Fundus Camera.
PMID 18541843 2008 Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography.
PMID 16167295 2005 Identification of XLRS1 gene mutation (608C > T) in a Portuguese family with juvenile retinoschisis.
PMID 10636740 1999 First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis.
PMID 17515881 2007 Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.
PMID 22039241 2011 X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.
PMID 12920343 2003 Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 29081674 2017 Segmented swept source optical coherence tomography angiography assessment of the perifoveal vasculature in patients with X-linked juvenile retinoschisis: a serial case report.
PMID 23847049 2013 Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
PMID 27246168 2016 Dramatic regression of macular and peripheral retinoschisis with dorzolamide 2 % in X-linked retinoschisis: a case report.
PMID 28450823 2017 Proteomic profiling of human intraschisis cavity fluid.
PMID 19390641 2009 Molecular genetic characteristics of X-linked retinoschisis in Koreans.
PMID 15531314 2004 Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene.
PMID 15932525 2005 Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia.
PMID 16272055 2005 Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease.
PMID 28272453 2017 Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients.
PMID 20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
PMID 17987333 2008 ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.
PMID 16361673 2006 Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.
PMID 19324861 2009 Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.
PMID 12782284 2003 Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin.
rs61752067 in
RS1;CDKL5 gene and
Retinal Dystrophies
PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.