Cargando…

New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review

Variants in PRPH2 are a common cause of inherited retinal dystrophies with high genetic and phenotypic heterogeneity. In this study, variants in PRPH2 were selected from in-house exome sequencing data, and all reported PRPH2 variants were evaluated with the assistance of online prediction tools and...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Yingwei, Wang, Junwen, Jiang, Yi, Zhu, Di, Ouyang, Jiamin, Yi, Zhen, Li, Shiqiang, Jia, Xiaoyun, Xiao, Xueshan, Sun, Wenmin, Wang, Panfeng, Zhang, Qingjiong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10095211/ https://www.ncbi.nlm.nih.gov/pubmed/37047703 http://dx.doi.org/10.3390/ijms24076728

Ejemplares similares

Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism
por: Wang, Yingwei, et al.
Publicado: (2023)

FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population
por: Yi, Shutong, et al.
Publicado: (2023)

Characterization of PROM1 p.Arg373Cys Variant in a Cohort of Chinese Patients: Macular Dystrophy Plus Peripheral Bone-Spicule Degeneration
por: Wang, Yingwei, et al.
Publicado: (2021)

Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing
por: Sun, Wenmin, et al.
Publicado: (2020)

Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy
por: Wang, Junwen, et al.
Publicado: (2022)

Retinopathy as an initial sign of hereditary immunological diseases: report of six families and challenges in eye clinic
por: Wang, Yingwei, et al.
Publicado: (2023)

Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review
por: Yang, Junxing, et al.
Publicado: (2021)

The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia
por: Jiang, Yi, et al.
Publicado: (2023)

Autosomal Dominant Retinitis Pigmentosa–Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867
por: Wang, Junwen, et al.
Publicado: (2022)

Novel BMP4 Truncations Resulted in Opposite Ocular Anomalies: Pathologic Myopia Rather Than Microphthalmia
por: Jiang, Yi, et al.
Publicado: (2021)

Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center
por: Wang, Yingwei, et al.
Publicado: (2022)

Spectrum, frequency, and genotype–phenotype of mutations in SPATA7
por: Xiao, Xueshan, et al.
Publicado: (2019)

RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China
por: Li, Shiqiang, et al.
Publicado: (2019)

CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection
por: Ouyang, Jiamin, et al.
Publicado: (2019)

Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement
por: Jiang, Yi, et al.
Publicado: (2021)

Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions
por: Wang, Junwen, et al.
Publicado: (2021)

Confirming and expanding the phenotypes of FZD5 variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia
por: Jiang, Yi, et al.
Publicado: (2021)

Structural variations in a non-coding region at 1q32.1 are responsible for the NYS7 locus in two large families
por: Sun, Wenmin, et al.
Publicado: (2020)

Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature
por: Zhu, Di, et al.
Publicado: (2023)

Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa
por: Yi, Zhen, et al.
Publicado: (2020)

Corrigendum to “comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa” [EBioMedicine 56(2020)102792] DOI: https://doi.org/10.1016/j.ebiom.2020.102792
por: Yi, Zhen, et al.
Publicado: (2022)

Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance
por: Wang, Yingwei, et al.
Publicado: (2023)

Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome
por: Wang, Panfeng, et al.
Publicado: (2023)

Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain
por: Li, Xueqing, et al.
Publicado: (2021)

A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family
por: Xiao, Xueshan, et al.
Publicado: (2011)

Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review
por: Xiao, Sainan, et al.
Publicado: (2023)

Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?
por: Zhou, Lin, et al.
Publicado: (2018)

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy
por: Chen, Yabin, et al.
Publicado: (2013)

Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma
por: Zhang, Xiaohui, et al.
Publicado: (2009)

Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3
por: Xiao, Xueshan, et al.
Publicado: (2019)

Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP
por: Xiao, Xueshan, et al.
Publicado: (2011)

Mutation spectrum of PAX6 in Chinese patients with aniridia
por: Zhang, Xiaohui, et al.
Publicado: (2011)

Novel RS1 mutations associated with X-linked juvenile retinoschisis
por: YI, JUNHUI, et al.
Publicado: (2012)

PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1
por: Wang, Juan, et al.
Publicado: (2010)

Non-Pharmaceutical Interventions against COVID-19 Causing a Lower Trend in Age of LHON Onset
por: Zheng, Yuxi, et al.
Publicado: (2023)

Mutation analysis of 12 genes in Chinese families with congenital cataracts
por: Sun, Wenmin, et al.
Publicado: (2011)

Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma
por: Jiang, Dan, et al.
Publicado: (2013)

Mutational screening of six genes in Chinese patients with congenital cataract and microcornea
por: Sun, Wenmin, et al.
Publicado: (2011)

Exome Sequencing of 18 Chinese Families with Congenital Cataracts: A New Sight of the NHS Gene
por: Sun, Wenmin, et al.
Publicado: (2014)

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis
por: Li, Lin, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_h8k02q9lufpdgc2fbhi0aa2q1u