Cargando…

Autosomal Dominant Retinitis Pigmentosa–Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867

PURPOSE: Heterozygous truncating variants of TOPORS have been reported to cause autosomal dominant retinitis pigmentosa (adRP). The purpose of this study was to investigate whether all heterozygous truncating variants, including copy number variants (CNVs), are pathogenic. METHODS: TOPORS truncating...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Junwen, Wang, Yingwei, Jiang, Yi, Li, Xueqing, Xiao, Xueshan, Li, Shiqiang, Jia, Xiaoyun, Sun, Wenmin, Wang, Panfeng, Zhang, Qingjiong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9123486/ https://www.ncbi.nlm.nih.gov/pubmed/35579903 http://dx.doi.org/10.1167/iovs.63.5.19

Ejemplares similares

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)

Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa
por: Bowne, Sara J., et al.
Publicado: (2008)

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

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

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

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)

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

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)

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

New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review
por: Wang, Yingwei, et al.
Publicado: (2023)

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)

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)

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

Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing
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)

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)

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)

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

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

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)

Non-Pharmaceutical Interventions against COVID-19 Causing a Lower Trend in Age of LHON Onset
por: Zheng, Yuxi, 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)

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)

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)

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)

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

Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia
por: Yang, Zhikuan, et al.
Publicado: (2009)

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

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

An evaluation of OPTC and EPYC as candidate genes for high myopia
por: Wang, Panfeng, et al.
Publicado: (2009)

Replication study of significant single nucleotide polymorphisms associated with myopia from two genome-wide association studies
por: Wang, Qin, et al.
Publicado: (2011)

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

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

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

Sequence variations of GRM6 in patients with high myopia
por: Xu, Xiaoyu, et al.
Publicado: (2009)

Evaluation of MFRP as a candidate gene for high hyperopia
por: Wang, Panfeng, et al.
Publicado: (2009)

Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy
por: Yang, Huiqin, et al.
Publicado: (2012)

Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing
por: Xu, Yan, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_657lt1uvqeh4l718nedq14rmep