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

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

rs104894929 in CDKL5;RS1 gene and RETINOSCHISIS 1, X-LINKED, JUVENILE PMID 9760195 1998 Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.

PMID 19093009 2008 Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

PMID 27798099 2016 Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.

PMID 9326935 1997 Positional cloning of the gene associated with X-linked juvenile retinoschisis.

PMID 17631851 2007 Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.

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 10450864 1999 Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.

PMID 17615541 2007 Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.

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 10079181 1999 Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.

PMID 10533068 1999 Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.

PMID 10234514 1999 Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.

PMID 10589241 1999 [A case of juvenile retinoschisis diagnosed by analysis of the XLRS 1 gene].

PMID 12928282 2003 Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.

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 21701876 2011 Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene.

PMID 19390641 2009 Molecular genetic characteristics of X-linked retinoschisis in Koreans.

PMID 20061330 2010 Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

PMID 18369700 2008 Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.

PMID 15932525 2005 Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia.

PMID 9618178 1998 Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.

PMID 17296904 2007 Novel phenotypic and genotypic findings in X-linked retinoschisis.

PMID 15937075 2005 X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients.

PMID 22332228 2012 Novel clinical manifestation of congenital X-linked retinoschisis.

PMID 18834580 2009 Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.

PMID 16361673 2006 Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.

PMID 10636429 2000 Clinical phenotype associated with the arg141 his mutation in the X-linked retinoschisis gene.

PMID 18690710 2008 Characterization and purification of the discoidin domain-containing protein retinoschisin and its interaction with galactose.

PMID 17525175 2007 Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy.

PMID 10636421 2000 X-linked retinoschisis with point mutations in the XLRS1 gene.

PMID 10947001 1999 Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG.

PMID 17515881 2007 Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.

PMID 10922205 2000 Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene.

PMID 20809529 2010 Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease.

PMID 23453514 2013 A phenotype-genotype correlation study of X-linked retinoschisis.

PMID 23514609 2014 Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide.

PMID 23847049 2013 Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.

PMID 12417531 2002 Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.