A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family

Liu, Tiecheng; Jin, Xin; Zhang, Xuemin; Yuan, Huijun; Cheng, Jing; Lee, Janet; Zhang, Baoquan; Zhang, Maonian; Wu, Jing; Wang, Limin; Tian, Geng; Wang, Weifeng

doi:10.1371/journal.pone.0045464

Cited by 27 publications

(19 citation statements)

References 25 publications

(37 reference statements)

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“…In contrast, another non-synonymous variant p.A1995T, which occurred in both patients and controls, was predicted to be benign, suggesting it is unlikely to be pathogenic. Notably, the three DCMs p.Q885E, p.S1087L, and p.R1090L, which were previously identified in three respective adRP pedigrees from northern China, 21,22,33 were not found in our study. In the first sec-63 domain region, which harbors two of these three mutations (p.S1087L and p.R1090L), only three common SNPs (p.L1184L, p.S1218S, and p.S1230s) and three intronic changes (c.3365 þ 145 G4A, c.3366-25 A4G, and c.3639 þ 53_c.3639 þ 93del) were detected in our study subjects.…”

Section: Discussioncontrasting

confidence: 76%

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Contribution of SNRNP200 sequence variations to retinitis pigmentosa

Zhang

Lai

Chiang

et al. 2013

Eye

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Purpose Mutations in the SNRNP200 gene have been reported to cause autosomal dominant retinitis pigmentosa (adRP). In this study, we evaluate the mutation profile of SNRNP200 in a cohort of southern Chinese RP patients. Methods Twenty adRP patients from 11 families and 165 index patients with non-syndromic RP with mixed inheritance patterns were screened for mutations in the mutation hotspots of SNRNP200. These included exons 12-16, 22-32, and 38-45, which covered the two helicase ATP-binding domains in DEAD-box and two sec-63 domains. The targeted regions were amplified by polymerase chain reaction and analyzed by direct DNA sequencing, followed by in silico analyses. Results Totally 26 variants were identified, 18 of which were novel.

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Section: Discussioncontrasting

confidence: 76%

“…Besides, a new mutation p.Q885E was recently identified in another four generations of Chinese family. 33 All four mutations (p.R681C, p.R681H, p.Y689C, and p.Q885E) are located in the first DEAD-box of SNRNP200.…”

Section: Introductionmentioning

confidence: 99%

Contribution of SNRNP200 sequence variations to retinitis pigmentosa

Zhang

Lai

Chiang

et al. 2013

Eye

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“…18,19 The majority of genetic studies of RP to date were conducted on patients of European descent and only a small subset of known RP disease genes have been investigated in Chinese patients. 13,18,20,21 In this study, we report the first comprehensive molecular diagnosis of a Chinese RP patient cohort using capture-NGS. Thirty-one unrelated well-characterized arRP families were screened for mutations in 163 retinal disease genes using capture sequencing.…”

Section: Resultsmentioning

confidence: 99%

Next-Generation Sequencing–Based Molecular Diagnosis of a Chinese Patient Cohort With Autosomal Recessive Retinitis Pigmentosa

Wang

et al. 2013

Invest. Ophthalmol. Vis. Sci.

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Citation: Fu Q, Wang F, Wang H, et al. Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2013;54:4158-4166. DOI:10.1167/iovs.13-11672 PURPOSE. Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease; therefore, an accurate molecular diagnosis is essential for appropriate disease treatment and family planning. The prevalence of RP in China had been reported at 1 in 3800, resulting in an estimated total of 340,000 Chinese RP patients. However, genetic studies of Chinese RP patients have been very limited. To date, no comprehensive molecular diagnosis has been done for Chinese RP patients. With the emergence of next-generation sequencing (NGS), comprehensive molecular diagnosis of RP is now within reach. The purpose of this study was to perform the first NGS-based comprehensive molecular diagnosis for Chinese RP patients.METHODS. Thirty-one well-characterized autosomal recessive RP (arRP) families were recruited. For each family, the DNA sample from one affected member was sequenced using our custom capture panel, which includes 163 retinal disease genes. Variants were called, filtered, and annotated by our in-house automatic pipeline. RESULTS.Twelve arRP families were successfully molecular diagnosed, achieving a diagnostic rate of approximately 40%. Interestingly, approximately 63% of the pathogenic mutations we identified are novel, which is higher than that observed in a similar study on European descent (45%). Moreover, the clinical diagnoses of two families were refined based on the pathogenic mutations identified in the patients.CONCLUSIONS. We conclude that comprehensive molecular diagnosis can be vital for an accurate clinical diagnosis of RP. Applying this tool on patients from different ethnic groups is essential for enhancing our knowledge of the global spectrum of RP disease-causing mutations.

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“…Intrafamilial phenotype variability has been documented across three generations of a Chinese family. 37 As intrafamilial variability is reported in autosomal dominant RP, diseasemodifying effects of identified SNPs in this report could be possible. [38][39][40] Here we described the detailed phenotype in autosomal dominant RP in a Swiss family with the c.3260C>T missense mutation in the SNRNP200 gene.…”

Section: Discussionmentioning

confidence: 69%

Genotype–Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa

Gerth‐Kahlert

Koller

Hanson

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. To compare phenotype variability in retinitis pigmentosa patients with recessive and dominant mutations in the SNRNP200 gene. METHODS. In a retrospective study, patients of two unrelated families were identified: family A, five patients aged 36 to 77 years; family B, one patient aged 9 years and his asymptomatic parents and sister. All patients received a comprehensive eye examination with a detailed retinal functional and morphologic assessment. Genetic testing was performed by whole exome sequencing (WES) in the index patient from each family. Genes described to be involved in eye diseases (n > 450) were screened for rare variants and segregation analysis was performed. RESULTS. A known heterozygous missense variant (c.3260C>T, p.(Ser1087Leu)) in the SNRNP200 gene was identified in the index patient of family A while a novel homozygous missense mutation (c.1634G>A, p.(Arg545His)) was found in the index patient of family B. Nyctalopia and photophobia were reported by 6/6 and 2/6 patients, respectively. The phenotype associated with the dominant mutation was characterized by variable disease onset (early childhood to the sixth decade of life), disease severity (visual acuity of 20/20-20/ 200 in the seventh to eighth decade), and advanced rod-cone dysfunction. Characteristics of recessive disease included distinct fundus changes of dot-like hypopigmentation together with retinal atrophy and severe rod-cone dysfunction. CONCLUSIONS. The phenotype characteristics in autosomal dominant and recessive SNRNP200 mutations show distinct features, with earlier severe disease in the recessive case and a variable disease expression in the dominant inheritance pattern.

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A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family

Cited by 27 publications

References 25 publications

Contribution of SNRNP200 sequence variations to retinitis pigmentosa

Contribution of SNRNP200 sequence variations to retinitis pigmentosa

Next-Generation Sequencing–Based Molecular Diagnosis of a Chinese Patient Cohort With Autosomal Recessive Retinitis Pigmentosa

Genotype–Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa

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