X-Linked Retinoschisis

Kim, David Y.; Neely, Kimberly A.; Sassani, Joseph W.; Vrabec, Tamara R.; Tantri, Avinash; Frost, Arcilee; Donoso, Larry A.

doi:10.1097/01.iae.0000224321.93502.a3

Cited by 7 publications

(3 citation statements)

References 25 publications

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“…Therefore, due to the lack of this proper ribosomal binding sequence, this mutation is likely to result in loss of protein production. Three other initiation codon mutations (1 A > G 1 A > T and 2 T > C) in the RS1 gene have been previously reported 14 15 16 .…”

Section: Discussionmentioning

confidence: 90%

“…1a–c ). Second, mutations affecting the same initiation codon p.M1 have been extensively reported in XLRS patients 3 12 13 14 . Third, this methionine is well conserved across different vertebrate species, suggesting functional importance.…”

Section: Resultsmentioning

confidence: 99%

“…Our patients had none of them, and it seems he got two different diseases in both eyes (II4). In another family with initiation code mutation, inconformity of phenotype in both eyes has also been reported 14 . Two of the family members had a history of “trauma” and one had ocular surgery and the other developed retinal detachment.…”

Section: Discussionmentioning

confidence: 96%

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X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family

Xiao

Liu

Tang

et al. 2016

Sci Rep

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X-linked juvenile retinoschisis (XLRS), a leading cause of juvenile macular degeneration, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina. Our study is to describe the clinical characteristics of a four generations of this family (a total of 18 members)with X-linked retinoschisis (XLRS) and detected a novel mutations of c.3G > A (p.M1?) in the initiation codon of the RS1 gene. by direct sequencing.Identification of this mutation in this family provides evidence about potential genetic or environmental factors on its phenotypic variance, as patients presented with different phenotypes regardless of having the same mutation. Importantly, OCT has proven vital for XLRS diagnosis in children.

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Section: Discussionmentioning

confidence: 90%

Section: Resultsmentioning

confidence: 99%

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X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family

Xiao

Liu

Tang

et al. 2016

Sci Rep

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Molecular Mechanisms Leading to Null-Protein Product from Retinoschisin (RS1) Signal-Sequence Mutants in X-Linked Retinoschisis (XLRS) Disease

et al. 2010

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Retinoschisin (RS1) is a cell-surface adhesion molecule expressed by photoreceptor and bipolar cells of the retina. The 24-kDa protein encodes two conserved sequence motifs: the initial signal sequence targets the protein for secretion while the larger discoidin domain is implicated in cell adhesion. RS1 helps to maintain the structural organization of the retinal cell layers and promotes visual signal transduction. RS1 gene mutations cause X-linked retinoschisis disease (XLRS) in males, characterized by early-onset central vision loss. We analyzed the biochemical consequences of several RS1 signal-sequence mutants (c.1A>T, c.35T>A, c.38T>C, and c. 52G>A) found in our subjects. Expression analysis in COS-7 cells demonstrates that they affect RS1 biosynthesis and result in an RS1 null phenotype by several different mechanisms. By comparison, discoidin-domain mutations generally lead to nonfunctional conformational variants that remain trapped inside the cell. XLRS disease has a broad heterogeneity in general, but subjects with the RS1 null-protein signal-sequence mutations are on the more severe end of the clinical phenotype. Results from the signal-sequence mutants are discussed in the context of the discoidin-domain mutations, clinical phenotypes, genotype-phenotype correlations, and implications for RS1 gene replacement therapy.

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Genotypic Analysis of X-linked Retinoschisis in Western Australia

Lamey

Laurin

Chelva

et al. 2009

Retinal Degenerative Diseases

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X-linked Retinoschisis is a leading cause of juvenile macular degeneration. Four Western Australian families affected by X-Linked Retinoschisis were analysed using DNA and clinical information from the Australian Inherited Retinal Disease (IRD) Register and DNA Bank. By direct sequencing of the RS1 gene, three genetic variants were identified; 52+1G > T, 289T > G and 416delA. 289T > G has not been previously reported and is likely to cause a substitution of a membrane binding residue (W92G) in the functional discoidin domain. All clinically diagnosed individuals showed typical electronegative ERGs. The 52+1G > T obligate carrier also recorded a bilaterally abnormal rod ERG and mildly abnormal photopic responses. mfERG trace arrays showed reduced response densities in the paramacular region extending futher temporally for each eye.

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X-Linked Retinoschisis

Cited by 7 publications

References 25 publications

X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family

X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family

Molecular Mechanisms Leading to Null-Protein Product from Retinoschisin (RS1) Signal-Sequence Mutants in X-Linked Retinoschisis (XLRS) Disease

Genotypic Analysis of X-linked Retinoschisis in Western Australia

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