High Prevalence of Mutations in the<i>EYS</i>Gene in Japanese Patients with Autosomal Recessive Retinitis Pigmentosa

Iwanami, Masaki; Oshikawa, Mio; Nishida, Tomomi; Nakadomari, Satoshi; Kato, Souichiro

doi:10.1167/iovs.11-9048

Cited by 67 publications

(56 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This high prevalence of EYS gene mutations, including two frequent mutations, has recently been confirmed by another study in the Japanese population. 12 Together, these findings strongly suggest that EYS gene mutations play a major role in the pathogenesis of arRP affecting the Japanese population. In this study, we only recruited patients with very likely pathogenic mutations and involvement of both alleles because a second mutant allele could not be detected by direct sequencing in 17/26 patients in the previous study, and the genotype of such patients could not be determined.…”

Section: Discussionmentioning

confidence: 83%

Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in theEYSGene

Suto

Hosono

Takahashi

et al. 2013

Ophthalmic Genetics

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 83%

Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in theEYSGene

Suto

Hosono

Takahashi

et al. 2013

Ophthalmic Genetics

View full text Add to dashboard Cite

show abstract

“…Indeed, the comparable yield of unselected exomes in simplex and multiplex cases argues against a major contribution of X-linked RD genes in simplex cases in our population. It is unclear how applicable this result is to more outbred populations, although evidence suggests that many sporadic patients in those populations also represent autosomal recessive inheritance (Avila-Fernandez et al 2010;Iwanami et al 2012). Another important result from our study is that our exome sequencing data make it unlikely that any additional novel gene will account for a substantial fraction of the remaining cases (see below).…”

Section: Autozygome/exome Analysis In Retinal Dystrophymentioning

confidence: 74%

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

et al. 2012

View full text Add to dashboard Cite

Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of photoreceptor function and contributes significantly to the etiology of blindness globally but especially in the industrialized world. The extreme locus and allelic heterogeneity of these disorders poses a major diagnostic challenge and often impedes the ability to provide a molecular diagnosis that can inform counseling and gene-specific treatment strategies. In a large cohort of nearly 150 RD families, we used genomic approaches in the form of autozygome-guided mutation analysis and exome sequencing to identify the likely causative genetic lesion in the majority of cases. Additionally, our study revealed six novel candidate disease genes (C21orf2, EMC1, KIAA1549, GPR125, ACBD5, and DTHD1), two of which (ACBD5 and DTHD1) were observed in the context of syndromic forms of RD that are described for the first time.

show abstract

“…19,29 In our cohort of patients with IRD, 90% of probands displayed sporadic or autosomal recessive mutations, which makes molecular diagnosis more challenging. 30 Several groups, including ours, have attempted to challenge the molecular diagnosis of simplex or autosomal recessive IRD 19,31,32 ; however, the detection rates remained lower than 20%. In this study, however, our results showed that 50% of patients with sporadic and 71% of patients with recessive IRD were successfully determined to have genetic predispositions, suggesting that targeted exome sequencing is an efficient and applicable approach for the molecular diagnosis of such patients.…”

Section: Discussionmentioning

confidence: 89%

Genotype–phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing

Huang

et al. 2015

Genetics in Medicine

177

126

View full text Add to dashboard Cite

Purpose: Inherited retinal dystrophy (IRD) is a leading cause of blindness worldwide. Because of extreme genetic heterogeneity, the etiology and genotypic spectrum of IRD have not been clearly defined, and there is limited information on genotype-phenotype correlations. The purpose of this study was to elucidate the mutational spectrum and genotype-phenotype correlations of IRD. Methods:We developed a targeted panel of 164 known retinal disease genes, 88 candidate genes, and 32 retina-abundant microRNAs, used for exome sequencing. A total of 179 Chinese families with IRD were recruited. Results:In 99 unrelated patients, a total of 124 mutations in known retinal disease genes were identified, including 79 novel mutations (detection rate, 55.3%). Moreover, novel genotype-phenotype correlations were discovered, and phenotypic trends noted. Three cases are reported, including the identification of AHI1 as a novel candidate gene for nonsyndromic retinitis pigmentosa. Conclusion:This study revealed novel genotype-phenotype correlations, including a novel candidate gene, and identified 124 genetic defects within a cohort with IRD . The identification of novel genotype-phenotype correlations and the spectrum of mutations greatly enhance the current knowledge of IRD phenotypic and genotypic heterogeneity, which will assist both clinical diagnoses and personalized treatments of IRD patients.

show abstract

High Prevalence of Mutations in theEYSGene in Japanese Patients with Autosomal Recessive Retinitis Pigmentosa

Cited by 67 publications

References 23 publications

Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in theEYSGene

Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in theEYSGene

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

Genotype–phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing

Contact Info

Product

Resources

About