Cargando…

Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN

Background: Little is known about genotype–phenotype correlations of RP1-associated retinal dystrophies in the Japanese population. We aimed to investigate the genetic spectrum of RP1 variants and provide a detailed description of the clinical findings in Japanese patients. Methods: In total, 607 pa...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mizobuchi, Kei, Hayashi, Takaaki, Oishi, Noriko, Kubota, Daiki, Kameya, Shuhei, Higasa, Koichiro, Futami, Takuma, Kondo, Hiroyuki, Hosono, Katsuhiro, Kurata, Kentaro, Hotta, Yoshihiro, Yoshitake, Kazutoshi, Iwata, Takeshi, Matsuura, Tomokazu, Nakano, Tadashi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8197273/ https://www.ncbi.nlm.nih.gov/pubmed/34073704 http://dx.doi.org/10.3390/jcm10112265

Ejemplares similares

Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants
por: Katagiri, Satoshi, et al.
Publicado: (2018)

Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families
por: Hayashi, Takaaki, et al.
Publicado: (2020)

The first Japanese family of CDH3‐related hypotrichosis with juvenile macular dystrophy
por: Hayashi, Takaaki, et al.
Publicado: (2021)

Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies
por: Mizobuchi, Kei, et al.
Publicado: (2019)

Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings
por: Mizobuchi, Kei, et al.
Publicado: (2020)

Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy
por: Kuniyoshi, Kazuki, et al.
Publicado: (2020)

Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa
por: Tachibana, Nobutaka, et al.
Publicado: (2022)

Cone Dystrophy in Patient with Homozygous RP1L1 Mutation
por: Kikuchi, Sachiko, et al.
Publicado: (2015)

X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers
por: Kurata, Kentaro, et al.
Publicado: (2019)

A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms
por: Kabuto, Takenori, et al.
Publicado: (2012)

Long-Term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness
por: Kurata, Kentaro, et al.
Publicado: (2017)

A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants
por: Haque, Muhammad Nazmul, et al.
Publicado: (2019)

Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X)
por: Mizobuchi, Kei, et al.
Publicado: (2018)

The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients
por: Torii, Kaoruko, et al.
Publicado: (2023)

Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort
por: Maeda-Katahira, Akiko, et al.
Publicado: (2019)

Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies
por: Oishi, Maho, et al.
Publicado: (2016)

Multimodal imaging of a case of peripheral cone dystrophy
por: Ito, Naoko, et al.
Publicado: (2015)

Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis
por: Kondo, Hiroyuki, et al.
Publicado: (2019)

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing
por: Hosono, Katsuhiro, et al.
Publicado: (2018)

RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort
por: Katagiri, Satoshi, et al.
Publicado: (2020)

High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 Mutation
por: Gocho, Kiyoko, et al.
Publicado: (2014)

Optical coherence tomography findings of the peripheral retina in patients with congenital X-linked retinoschisis
por: Nakajima, Ayaka, et al.
Publicado: (2023)

Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis
por: Hosono, Katsuhiro, et al.
Publicado: (2015)

Retinitis pigmentosa with optic neuropathy and COQ2 mutations: A case report
por: Kurata, Kentaro, et al.
Publicado: (2022)

Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal Disorder
por: Liu, Xiao, et al.
Publicado: (2020)

Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association
por: Fujinami-Yokokawa, Yu, et al.
Publicado: (2020)

Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations
por: Miyamichi, Daisuke, et al.
Publicado: (2019)

Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum
por: Huckfeldt, Rachel M., et al.
Publicado: (2020)

A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene
por: Morikawa, Hazuki, et al.
Publicado: (2023)

Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency
por: Yang, Lizhu, et al.
Publicado: (2020)

Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome
por: Nishina, Sachiko, et al.
Publicado: (2021)

Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy
por: Buckley, Thomas M.W., et al.
Publicado: (2022)

Detailed Morphological Changes of Foveoschisis in Patient with X-Linked Retinoschisis Detected by SD-OCT and Adaptive Optics Fundus Camera
por: Akeo, Keiichiro, et al.
Publicado: (2015)

Photoreceptor-Specific Temporal Contrast Sensitivities in RP1L1-Associated Occult Macular Dystrophy
por: Huchzermeyer, Cord, et al.
Publicado: (2023)

Periodicity of SNP distribution around transcription start sites
por: Higasa, Koichiro, et al.
Publicado: (2006)

Analysis of the Serum Bile Acid Composition for Differential Diagnosis in Patients with Liver Disease
por: Sugita, Tomonori, et al.
Publicado: (2015)

Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan
por: Oishi, Akio, et al.
Publicado: (2021)

Multimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant
por: Bianco, Lorenzo, et al.
Publicado: (2022)

Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome
por: Katagiri, Satoshi, et al.
Publicado: (2013)

Genome Editing Gene Therapy for Duchenne Muscular Dystrophy
por: Hotta, Akitsu
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_mf7gah3pai2dtivf5gfs990hcd