Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis

Atchaneeyasakul, La-ongsri; Trinavarat, Adisak; Pituksung, Auengporn; Jinda, Worapoj; Thongnoppakhun, Wanna; Limwongse, Chanin

doi:10.1007/s10384-009-0748-6

Cited by 5 publications

(5 citation statements)

References 21 publications

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“…To date, this is the first report of the 573delG mutation in the Chinese population, which widens the mutational spectrum of RS1 and is expected to help with diagnosis of this rare genetic disease XLRS in Asians. This identified mutation is present in the hotspot region at amino acid position 192, belonging to the highly conserved discoidin motif of retinoschisin protein, which supports the notion that this domain has functional significance in cell-tocell adhesion (9). Our results are in agreement with previous findings reported in an Australia population by Hewitt et al (10).…”

Section: Discussionsupporting

confidence: 83%

Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis

Hou

Yan

Guo

et al. 2012

Intractable Rare Dis Res

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Section: Discussionsupporting

confidence: 83%

Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis

Hou

Yan

Guo

et al. 2012

Intractable Rare Dis Res

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“…This indicates that retinoschisis in this family is a necessary consequence to optic disc anomalies, but with morphologic variants. Noteworthy, the proband III:8 and patient III:1 were originally misdiagnosed as inherited retinoschisis, which is often juvenile onset, X-linked with mutations in the retinoschisin ( RS1 , MIM: 312700) gene, and involves maculae 15 – 19 . Macular retinoschisis can also occur in the condition of glaucoma with progressively enlarged excavation 20 , 21 .…”

Section: Discussionmentioning

confidence: 99%

A large family with inherited optic disc anomalies: a correlation between a new genetic locus and complex ocular phenotypes

Wang

Pan

et al. 2017

Sci Rep

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Congenital cavitary optic disc anomalies (CODA) is clinically typified by an enlarged excavation of optic disc in diverse degrees. Here, we report the clinical and genetic findings in a four-generation Chinese family with a complicated form of autosomal dominant CODA. Cardinal manifestations included bilateral excavated optic disc with multiple cilioretinal vessels emerging and bilateral retinoschisis with great variability in the range of extension and severity. Other intra-familial phenotypic diversities were also noted, including severity in retinal atrophy, onset age of visual impairment and presence of congenital nystagmus and strabismus. Genome-wide linkage analysis and fine mapping mapped a novel locus for CODA to a 34.3 cM interval between D14S972 and D14S139 at 14q12-q22.1. A maximum multi-point log odds score of 3.901 was reached at D14S275. However, no mutation was identified by exome sequencing or direct sequencing of PAX6 and PAX2 genes, suggesting that the mutation may reside within a regulatory element. In conclusion, we find retinoschisis as a necessary consequence of optic nerve head (ONH) anomalies. The complicated phenotype observed in the family provided additional insights into the inherited ONH anomalies. Mapping of a novel locus, 14q12-q22.1, implies a new disease-causing gene and potential distinct pathogenesis for CODA.

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“…Given the high number of RS1 mutations, several studies investigated a possible correlation between genotype and phenotype. Even though some reports describe a correlation between specific variations and the severity of clinical phenotype (22,23), the majority of published studies found that XLRS patients had relatively uniform clinical manifestations, although with great intra-familial variation in age at onset and progression (1,(24)(25)(26).…”

Section: Discussionmentioning

confidence: 99%

Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis

Piermarocchi

Miotto²,

Colavito³

et al. 2017

Biomedical Reports

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The aim of the present study was to report a novel mutation in the retinoschisin 1 (RS1) gene in a Caucasian family affected by X-linked juvenile retinoschisis (XLRS) and to describe the long-term modification of retinal structure. Two brothers with an early onset maculopathy were diagnosed with XLRS. Fundus photography, fluorescein angiography, spectral domain optical coherence tomography and electroretinogram analyses were performed. Their sister was also examined. All subjects were screened for mutations in the RS1 gene. XLRS patients demonstrated a marked reduction of best-corrected visual acuity. SD-OCT scans reported a cystic degeneration primarily involving the inner nuclear layer, though some cysts were detected in the outer plexiform layer and in the ganglion cell layer. During the ten-year follow-up, a progressive retinal thickening and coalescence of the cysts was observed. Genetic testing revealed a novel mutation (p.Ile212Asn) in the RS1 gene in both XLRS patients, whereas their sister was not a genetic carrier. Several mutations of the RS1 gene were recognized to be responsible for XLRS. Although the correspondence between genotype and phenotype is still under debate, is reasonable that siblings affected by XLRS could share other genetic and/or epigenetic factors capable to influence clinical course of the disease.

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Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis

Abstract: A novel p.D126G mutation appeared to be associated with a severe phenotype with vitreous hemorrhage developing in infancy. Both intra- and interfamilial clinical variabilities were recognized in our patients.

Cited by 5 publications

References 21 publications

Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis

Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis

A large family with inherited optic disc anomalies: a correlation between a new genetic locus and complex ocular phenotypes

Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis

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