scholarly journals RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa

2001 ◽  
Vol 17 (5) ◽  
pp. 436-436 ◽  
Author(s):  
Larry Baum ◽  
Wai-Man Chan ◽  
Kwun-Yan Yeung ◽  
Dennis S.C. Lam ◽  
Alvin K.H. Kwok ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Novel Variants

EYSmutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa

2017 ◽  
Vol 39 (2) ◽  
pp. 177-186 ◽  
Author(s):  
Muriël Messchaert ◽  
Lonneke Haer-Wigman ◽  
Muhammad I. Khan ◽  
Frans P. M. Cremers ◽  
Rob W. J. Collin
Keyword(s):  
Retinitis Pigmentosa ◽  
In Silico ◽  
Novel Variants

Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family

2020 ◽  
Vol 41 (4) ◽  
pp. 390-393
Author(s):  
Yanling Long ◽  
Sha Li ◽  
Limeng Dai ◽  
Xiao Liu ◽  
Xin Yin ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Chinese Family ◽  
Novel Variants

scholarly journals Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 537
Author(s):  
Lujia Zhang ◽  
Ya Li ◽  
Litao Qin ◽  
Yu Wu ◽  
Bo Lei
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Cultured Cells ◽  
Missense Variant ◽  
Chinese Families ◽  
Targeted Next Generation Sequencing ◽  
Novel Variants ◽  
Next Generation Sequencing Ngs ◽  
Computational Predictions

Retinitis pigmentosa 77 is caused by mutations of REEP6 (MIM: 609346), which encodes a protein for the development of photoreceptors. Our study was to identify disease-causing variants in three Chinese families using targeted next-generation sequencing (NGS). Multiple lines of computational predictions combined with in vitro cellular experiments were applied to evaluate the pathogenicity of the newly found variants. Three novel variants in REEP6, including one missense variant, c.268G>C, one frameshift variant, c.468delC, and one splicing variant, c.598+1G>C, were found, while c.268G>C was detected in all probands. The three variants were classified as likely pathogenic by the American College of Medical Genetics and Genomics (ACMG). REEP6 variant proteins c.268G>C and c.468delC in cultured cells destabilized the REEP6 protein and induced intracellular inclusions. Our data suggested that REEP6 c.268G>C may be a recurrent causative variant in Chinese autosomal recessive retinitis pigmentosa patients.

scholarly journals Novel Variants in Phosphodiesterase 6A and Phosphodiesterase 6B Genes and Its Phenotypes in Patients With Retinitis Pigmentosa in Chinese Families

2021 ◽  
Author(s):  
Yuyu Li ◽  
Ruyi Li ◽  
Hehua Dai ◽  
Genlin Li
Keyword(s):  
Retinitis Pigmentosa ◽  
Sanger Sequencing ◽  
Autosomal Recessive ◽  
Eye Disease ◽  
Specific Enzyme ◽  
Novel Mutations ◽  
Chinese Families ◽  
Novel Variants

Abstract Background: Retinitis pigmentosa (RP) is a genetically heterogeneous disease with 65 causative genes identified to date. However, only approximately 60% of RP cases genetically solved to date, predicating that many novel disease-causing variants are yet to be identified. The purpose of this study is to identify novel variants in phosphodiesterase 6A and phosphodiesterase 6B genes and present its phenotypes in patients with retinitis pigmentosa in Chinese families.Methods: Five retinitis pigmentosa patients with PDE6A variants and three with PDE6B variants were identified through a hereditary eye disease enrichment panel (HEDEP), all patients’ medical and ophthalmic histories were collected, and ophthalmological examinations were performed, then we analysed the possible causative variants. Sanger sequencing was used to verify the variants.Results: We identified 20 mutations sites in eight patients, two heterozygous variants were identified per patient of either PDE6A or PDE6B variants, others are from CA4, OPTN, RHO, ADGRA3 variants. We identified two novel variants in PDE6A: c.1246G > A;p.(Asp416Asn) and c.1747T > A;p.(Tyr583Asn). Three novel mutations in PDE6B: c.401T > C;p.(Leu134Pro), c.2293G > C;p.(Ala765Pro) and c.1610-1612del;p.(537-538del).CA4: c.243G > A;p.(Trp81*) and RHO: c.688G>A;p.(Val230Ile) are novel variants and maybe affecting the phenotype. Among them, c.401T > C;p.(Leu134Pro) variant in PDE6B is non- pathogenic; RHO: c.688G>A;p.(Val230Ile) is conflicting interpretations of pathogenicity;Other novel variants are all pathogenic.Conclusions: This study reveals novel and known variants in Chinese families with PDE6A and PDE6B mutations in autosomal recessive RP, expanding the clinical and genetic findings of photoreceptor-specific enzyme deficiencies.

scholarly journals Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants

2019 ◽  
Vol 6 (1) ◽  
Author(s):  
Go Mawatari ◽  
◽  
Kaoru Fujinami ◽  
Xiao Liu ◽  
Lizhu Yang ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Japanese Population ◽  
Age Of Onset ◽  
Genetic Characteristics ◽  
Therapeutic Trials ◽  
Novel Variants ◽  
Genetic Features ◽  
The Mean ◽  
The Right ◽  
Retinal Disorder

AbstractVariants in the retinitis pigmentosa GTPase regulator (RPGR) gene are a major cause of X-linked inherited retinal disorder (IRD). We herein describe the clinical and genetic features of 14 patients from 13 Japanese families harboring RPGR variants in a nationwide cohort. Comprehensive ophthalmological examinations were performed to classify the patients into one of the phenotype subgroups: retinitis pigmentosa (RP) and cone rod dystrophy (CORD). The mean age of onset/at examination was 13.8/38.1 years (range, 0–50/11–72), respectively. The mean visual acuity in the right/left eye was 0.43/0.43 (range, 0.1–1.7/−0.08–1.52) LogMAR unit. Eight patients had RP, and six had CORD. Whole-exome sequencing with target analyses identified 13 RPGR variants in 730 families with IRD, including 8 novel variants. An association between the phenotype subgroup and the position of variants (cutoff of amino acid 950) was revealed. To conclude, the clinical and genetic spectrum of RPGR-associated retinal disorder was first illustrated in a Japanese population, with a high proportion of novel variants. These results suggest the distinct genetic background of RPGR in the Japanese population, in which the genotype–phenotype association was affirmed. This evidence should be helpful monitoring and counseling patients and in selecting patients for future therapeutic trials.

Novel Variants of RPGR in X-Linked Retinitis Pigmentosa Families and Genotype-Phenotype Correlation

2016 ◽  
Vol 27 (2) ◽  
pp. 240-248 ◽  
Author(s):  
Francesco Parmeggiani ◽  
Vanessa Barbaro ◽  
Angelo Migliorati ◽  
Paolo Raffa ◽  
Patrizia Nespeca ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Genetic Variants ◽  
Novel Mutation ◽  
Phenotypic Variability ◽  
Open Reading Frames ◽  
Pathological Effect ◽  
Exon 2 ◽  
Novel Variants ◽  
Ophthalmologic Examination ◽  
Exon 10

Purpose To identify novel mutations in the retinitis pigmentosa GTPase regulator ( RPGR) gene and retinitis pigmentosa 2 ( RP2) gene underlying X-linked retinitis pigmentosa (XLRP) and assess genotype-phenotype correlations. Methods The patient cohort, consisting of 13 individuals from 3 unrelated XLRP families, underwent comprehensive ophthalmologic examination. The open reading frames of RPGR and RP2 were analyzed with Sanger sequencing in each patient. The identified genetic variants were defined as mutations or polymorphisms on the basis of their pathological effect. Results We found 3 genetic variants: a novel mutation c.1591G>T in exon 14 and a novel polymorphism c.1105C>T in exon 10, resulting in p.Glu531* and p.Arg369Cys of RPGR gene, respectively, and one already known mutation c.413A>G in exon 2, resulting in a p.Glu138Gly of RP2 gene. Considering our XLRP probands, RPGR-related phenotypic damages were similar and less severe than those of the patient with the RP2 mutation. On the other hand, the female carriers of XLRP variants showed different RPGR-related consequences, ranging from rods hypofunctionality in c.1591G>T nonsense heterozygosity to no retinal changes in c.1105C>T polymorphic heterozygosity. Conclusions These findings broaden the spectrum of RPGR mutations and phenotypic variability of the disease, which will be useful for genetic consultation and diagnosis in the future.

scholarly journals Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families

2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Yuyu Li ◽  
Ruyi Li ◽  
Hehua Dai ◽  
Genlin Li
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Compound Heterozygous ◽  
The Novel ◽  
Specific Enzyme ◽  
Genetic Changes ◽  
Chinese Families ◽  
Novel Variants ◽  
Novel Variant ◽  
Compound Heterozygous State

Abstract Background Retinitis pigmentosa (RP) is a genetically heterogeneous disease with 89 causative genes identified to date. However, only approximately 60% of RP cases genetically solved to date, predicating that many novel disease-causing variants are yet to be identified. The purpose of this study is to identify novel variants in PDE6A and PDE6B genes and present its phenotypes in patients with retinitis pigmentosa in Chinese families. Methods Five retinitis pigmentosa patients with PDE6A variants and three with PDE6B variants were identified through a hereditary eye disease enrichment panel (HEDEP), all patients’ medical and ophthalmic histories were collected, and ophthalmological examinations were performed, followed by an analysis of the possible causative variants. Sanger sequencing was used to verify the variants. Results We identified 20 variants in eight patients: 16 of them were identified in either PDE6A or PDE6B in a compound heterozygous state. Additional four heterozygous variants were identified in the genes ADGRA3, CA4, OPTN, RHO. Two novel genetic changes in PDE6A were identified (c.1246G > A and c.1747 T > A), three novel genetic changes in PDE6B were identified (c.401 T > C, c.2293G > C and c.1610-1612del), out of the novel identified variants one was most probably non-pathogenic (c.2293G > C), all other novel variants are pathogenic. Additional variant was identified in CA4 and RHO, which can cause ADRP (c.243G > A, c.688G > A). In addition, a novel variant in ADGRA3 was identified (c.921-1G > A). Conclusions This study reveals novel and known variants in PDE6A and PDE6B genes in Chinese families with autosomal recessive RP, and expands the clinical and genetic findings of photoreceptor-specific enzyme deficiencies.

An Alternative to Self-Reports of Trait and State Affect

2014 ◽  
Vol 30 (3) ◽  
pp. 231-237 ◽  
Author(s):  
Markus Quirin ◽  
Regina C. Bode
Keyword(s):  
Self Report ◽  
Factorial Validity ◽  
Artificial Language ◽  
Cognitive Representation ◽  
Affective States ◽  
Novel Variants ◽  
Self Reports ◽  
State Affect ◽  
Affective Experiences ◽  
Automatic Activation

Self-report measures for the assessment of trait or state affect are typically biased by social desirability or self-delusion. The present work provides an overview of research using a recently developed measure of automatic activation of cognitive representation of affective experiences, the Implicit Positive and Negative Affect Test (IPANAT). In the IPANAT, participants judge the extent to which nonsense words from an alleged artificial language express a number of affective states or traits. The test demonstrates appropriate factorial validity and reliabilities. We review findings that support criterion validity and, additionally, present novel variants of this procedure for the assessment of the discrete emotions such as happiness, anger, sadness, and fear.

A Dermatoglyphics Study of Retinitis Pigmentosa– A Case Study

2012 ◽  
Vol 3 (5) ◽  
pp. 5-6
Author(s):  
Dr. Chandan Kumar Sinha ◽  
◽  
Amminabhavi Nazia Banu Nurahmad ◽  
Yogita Mallu Kattimani
Keyword(s):  
Retinitis Pigmentosa
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