scholarly journals Clinical and genetic characteristics of 10 Japanese patients with PROM1 ‐associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population

2020 ◽  
Vol 184 (3) ◽  
pp. 656-674 ◽  
Author(s):  
Kaoru Fujinami ◽  
Akio Oishi ◽  
Lizhu Yang ◽  
Gavin Arno ◽  
Nikolas Pontikos ◽  
...  
Keyword(s):  
Literature Review ◽  
Japanese Population ◽  
Japanese Patients ◽  
Genetic Characteristics ◽  
Retinal Disorder

scholarly journals Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients

2019 ◽  
Vol 56 (10) ◽  
pp. 662-670 ◽  
Author(s):  
Yoshito Koyanagi ◽  
Masato Akiyama ◽  
Koji M Nishiguchi ◽  
Yukihide Momozawa ◽  
Yoichiro Kamatani ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Japanese Population ◽  
East Asian ◽  
Japanese Patients ◽  
Population Based ◽  
Genetic Profile ◽  
Genetic Characteristics ◽  
Pathogenic Variants ◽  
Recessive Genes ◽  
Dominant Genes

BackgroundThe genetic profile of retinitis pigmentosa (RP) in East Asian populations has not been well characterised. Therefore, we conducted a large-scale sequencing study to investigate the genes and variants causing RP in a Japanese population.MethodsA total of 1209 Japanese patients diagnosed with typical RP were enrolled. We performed deep resequencing of 83 known causative genes of RP using next-generation sequencing. We defined pathogenic variants as those that were putatively deleterious or registered as pathogenic in the Human Gene Mutation Database or ClinVar database and had a minor allele frequency in any ethnic population of ≤0.5% for recessive genes or ≤0.01% for dominant genes as determined using population-based databases.ResultsWe successfully sequenced 1204 patients with RP and determined 200 pathogenic variants in 38 genes as the cause of RP in 356 patients (29.6%). Variants in six genes (EYS, USH2A, RP1L1, RHO, RP1 and RPGR) caused RP in 65.4% (233/356) of those patients. Among autosomal recessive genes, two known founder variants in EYS [p.(Ser1653fs) and p.(Tyr2935*)] and four East Asian-specific variants [p.(Gly2752Arg) in USH2A, p.(Arg658*) in RP1L1, p.(Gly2186Glu) in EYS and p.(Ile535Asn) in PDE6B] and p.(Cys934Trp) in USH2A were found in ≥10 patients. Among autosomal dominant genes, four pathogenic variants [p.(Pro347Leu) in RHO, p.(Arg872fs) in RP1, p.(Arg41Trp) in CRX and p.(Gly381fs) in PRPF31] were found in ≥4 patients, while these variants were unreported or extremely rare in both East Asian and non-East Asian population-based databases.ConclusionsEast Asian-specific variants in causative genes were the major causes of RP in the Japanese population.

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.

scholarly journals Clinical and Genetic Characteristics of Japanese Patients with Age-Related Macular Degeneration and Pseudodrusen

Ophthalmology ◽  
2016 ◽  
Vol 123 (10) ◽  
pp. 2205-2212 ◽  
Author(s):  
Sufian Elfandi ◽  
Sotaro Ooto ◽  
Naoko Ueda-Arakawa ◽  
Ayako Takahashi ◽  
Munemitsu Yoshikawa ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Japanese Patients ◽  
Age Related Macular Degeneration ◽  
Genetic Characteristics ◽  
Age Related

scholarly journals Aberrant expression and methylation of individual microRNAs genes in lymphoproliferative diseases: a literature review

2021 ◽  
pp. 108-133
Author(s):  
E.N. Voropaeva ◽  
◽  
O.V. Berezina ◽  
M.I. Churkina ◽  
T.I. Pospelova ◽  
...  
Keyword(s):  
Literature Review ◽  
Molecular Genetic ◽  
Blood System ◽  
Malignant Neoplasms ◽  
Lymphoproliferative Diseases ◽  
Gene Methylation ◽  
Aberrant Expression ◽  
Genetic Characteristics ◽  
Cellular Processes ◽  
Almost All

In recent decades, it has been found that microRNAs are involved in almost all cellular processes, including the development of tumors. In this paper, we consider the molecular genetic characteristics of a number of microRNAs that function in normal hematopoiesis, whose expression is impaired in the development of lymphoproliferative diseases. The last published results of studies on the diagnostic, prognostic and clinical significance of gene methylation considered by microRNAs in malignant neoplasms of the blood system are presented.

scholarly journals Genetic profiles of Barrett’s esophagus and esophageal adenocarcinoma in Japanese patients

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Mamoru Tokunaga ◽  
Kenichiro Okimoto ◽  
Naoki Akizue ◽  
Kentaro Ishikawa ◽  
Yosuke Hirotsu ◽  
...  
Keyword(s):  
Barrett’S Esophagus ◽  
Esophageal Adenocarcinoma ◽  
Barrett's Esophagus ◽  
Medical Information ◽  
Japanese Patients ◽  
Endoscopic Biopsy ◽  
University Hospital ◽  
Genetic Profile ◽  
Genetic Characteristics ◽  
Significant Difference

AbstractThe genetic characteristics of Barrett’s esophagus (BE) and esophageal adenocarcinoma (EAC) in the Japanese population is unclear. This study aims to investigate the genetic characteristics from nondysplastic BE (NDBE) to early EAC in Japan. Clinical information was collected. Moreover, the genetic profile of NDBE without concurrent dysplasia, early EAC, and surrounding BE were also investigated using endoscopic biopsy samples and formalin-fixed, paraffin-embedded specimens from Japanese patients by targeted next-generation sequencing. Immunohistochemical staining for p53 was also performed for EAC lesions. Targeted NGS was performed for 33 cases with 77 specimens. No significant difference exists in the NDBE group between the number of putative drivers per lesion in the short-segment Barrett’s esophagus (SSBE) and long-segment Barrett’s esophagus (LSBE) [0 (range, 0–1) vs. 0 (range, 0–1). p = 1.00]. TP53 putative drivers were found in two patients (16.7%) with nondysplastic SSBE. TP53 was the majority of putative drivers in both BE adjacent to EAC and EAC, accounting for 66.7% and 66.7%, respectively. More putative drivers per lesion were found in the EAC than in the NDBE group [1 (range, 0–3) vs. 0 (range, 0–1). p < 0.01]. The genetic variants of TP53 in the Japanese early EAC were similar to those in western countries. However, TP53 putative drivers were detected even in Japanese patients with nondysplastic SSBE. This is significant because such nondysplastic SSBE might have higher risk of progressing to high-grade dysplasia or EAC. The risks of progression may not be underestimated and appropriate follow-ups may be necessary even in patients with SSBE.Trial registration: This study was registered at the University Hospital Medical Information Network (UMIN000034247).

scholarly journals Toll-Like Receptor 2 Gene Polymorphisms Associated with Aggressive Periodontitis in Japanese

2011 ◽  
Vol 5 (1) ◽  
pp. 190-194 ◽  
Author(s):  
Marika Takahashi ◽  
Zhiyong Chen ◽  
Kaoru Watanabe ◽  
Hiroaki Kobayashi ◽  
Toshiaki Nakajima ◽  
...  
Keyword(s):  
Japanese Population ◽  
Permutation Test ◽  
Japanese Patients ◽  
Aggressive Periodontitis ◽  
Toll Like Receptor ◽  
Synonymous Polymorphism ◽  
Intron 1 ◽  
Exon 1 ◽  
Severe Periodontal Disease ◽  
Toll Like Receptor 2

Background and Objective: Aggressive periodontitis is a rare and very severe periodontal disease of early onset, which is closely associated with Porphyromonas.gingivalis (P.g.) infection in the Japanese population. TLR2 encodes Toll-like receptor 2, which plays an important role in the protective response to P.g. infection. We investigated a possible association between TLR2 and aggressive periodontitis. Material and Methods: Of 2,460 Japanese patients with periodontitis, 38 patients with aggressive periodontitis were enrolled in this study. These 38 aggressive periodontitis patients and 190 Japanese healthy controls were examined for an insertion/deletion (Ins/Del) polymorphism in exon 1, a polymorphism in intron 1 (rs7696323), and a synonymous polymorphism in exon 3 (rs3804100) in TLR2. Results: We found significant associations of resistance to aggressive periodontitis with the Ins allele (allele frequency in the patients versus controls, 0.540 vs. 0.676, OR=0.56, 95% confidence interval (CI); 0.34-0.92, p=0.022) and the T allele of rs3804100 (0.579 vs. 0.716, OR=0.55, 95% CI; 0.33-0.91, p=0.018), although the C allele of rs7696323 showed no significant association (0.733 vs. 0.829, OR=0.58). A permutation test of Ins/Del-rs7696323-rs3804100 haplotype revealed a significant association between Ins-C-T haplotype (0.252 vs. 0.479, p=0.0003) and resistance to aggressive periodontitis. Conclusions: The TLR2 polymorphisms were suggested to confer protection against aggressive periodontitis in a Japanese population. The association should be replicated in other cohorts to further identify the responsible TLR polymorphism(s) involved in the pathogenesis of aggressive periodontitis.

DENTAL AND NEUROLOGICAL PATHOLOGIES IN CHILDREN: ETIOPATOGENETIC ASPECTS OF THEIR INTERRELATION AND DIAGNOSTIC(literature review)

2020 ◽  
Vol 5 (1) ◽  
pp. 61-67
Author(s):  
Sunnatullo Gafforov ◽  
◽  
Farkhod Khamroyev ◽  
Vazira Kuldasheva
Keyword(s):  
Literature Review ◽  
Oral Cavity ◽  
Children And Adolescents ◽  
Preventive Measures ◽  
Neurological Diseases ◽  
Genetic Characteristics ◽  
Number Of Patients ◽  
The World ◽  
The Relationship

We know that, currently in the world there is an increase in the number of patients, both children and adolescents, with psycho neurological diseases (PND). The authors, according to the results of the literature data studied over the last 10 years, argue that the problem associated with pathologies of the oral cavity organs in combination with PND is far from fully study. In their opinion, it is very important to study the relationship between these pathological processes and to develop therapeutic, diagnostic and preventive measures based on etiopatho genetic characteristics.

scholarly journals Genetic characteristics of inflammatory bowel disease in a Japanese population

2015 ◽  
Vol 51 (7) ◽  
pp. 672-681 ◽  
Author(s):  
Yuta Fuyuno ◽  
Keiko Yamazaki ◽  
Atsushi Takahashi ◽  
Motohiro Esaki ◽  
Takaaki Kawaguchi ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Japanese Population ◽  
Genetic Characteristics ◽  
Inflammatory Bowel
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