Cargando…

A 69 kb Deletion in chr19q13.42 including PRPF31 Gene in a Chinese Family Affected with Autosomal Dominant Retinitis Pigmentosa

We aimed to identify the genetic cause of autosomal dominant retinitis pigmentosa (adRP) and characterize the underlying molecular mechanisms of incomplete penetrance in a Chinese family affected with adRP. All enrolled family members underwent ophthalmic examinations. Whole-genome sequencing (WGS),...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lan, Yuanzheng, Chen, Yuhong, Qiao, Yunsheng, Xu, Qingdan, Zhai, Ruyi, Sun, Xinghuai, Wu, Jihong, Chen, Xueli
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9695658/ https://www.ncbi.nlm.nih.gov/pubmed/36431159 http://dx.doi.org/10.3390/jcm11226682

Ejemplares similares

Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients
por: Xu, Fei, et al.
Publicado: (2012)

Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the PRPF31 gene
por: Ali-Nasser, Tahleel, et al.
Publicado: (2022)

Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa
por: Zhong, Zilin, et al.
Publicado: (2016)

Identification of two novel PRPF31 mutations in Chinese families with non‐syndromic autosomal dominant retinitis pigmentosa
por: Cao, Li, et al.
Publicado: (2020)

Corrigendum: Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa
por: Zhong, Zilin, et al.
Publicado: (2017)

Targeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families
por: Yang, Liping, et al.
Publicado: (2013)

A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration
por: Lu, Fang, et al.
Publicado: (2013)

A 13.42-kb tandem duplication at the ASIP locus is strongly associated with the depigmentation phenotype of non-classic Swiss markings in goats
por: Guo, Jiazhong, et al.
Publicado: (2022)

CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance
por: Venturini, Giulia, et al.
Publicado: (2012)

Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy
por: Wheway, Gabrielle, et al.
Publicado: (2020)

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa
por: Buskin, Adriana, et al.
Publicado: (2018)

Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene
por: Vaclavik, Veronika, et al.
Publicado: (2010)

Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31
por: Wilkie, Susan E., et al.
Publicado: (2008)

Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression
por: Ruberto, Francesco Paolo, et al.
Publicado: (2021)

Modeling PRPF31 retinitis pigmentosa using retinal pigment epithelium and organoids combined with gene augmentation rescue
por: Rodrigues, Amélie, et al.
Publicado: (2022)

Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India
por: Gandra, Mamatha, et al.
Publicado: (2008)

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa
por: Rose, Anna M., et al.
Publicado: (2016)

A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa
por: Wheway, Gabrielle, et al.
Publicado: (2019)

Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31-Associated Retinitis Pigmentosa in a Danish Cohort
por: Lisbjerg, Kristian, et al.
Publicado: (2023)

Gene augmentation prevents retinal degeneration in a CRISPR/Cas9-based mouse model of PRPF31 retinitis pigmentosa
por: Xi, Zhouhuan, et al.
Publicado: (2022)

The morphology of angle dysgenesis assessed by ultrasound biomicroscopy and its relationship with glaucoma severity and mutant genes in Axenfeld-Rieger syndrome
por: Xu, Qingdan, et al.
Publicado: (2023)

PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti's Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family
por: Meng, Xiaohong, et al.
Publicado: (2017)

Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract
por: Wang, Li, et al.
Publicado: (2016)

Intermediate Uveitis in Retinitis Pigmentosa Associated with a Novel Homozygous Splice Site Mutation in PRPF8
por: Badawi, Abdulrahman H., et al.
Publicado: (2022)

Erratum: Vol. 69, No. 42
Publicado: (2020)

Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa
por: Yin, Jun, et al.
Publicado: (2011)

Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review
por: Zhang, Xinyue, et al.
Publicado: (2021)

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
por: Audo, Isabelle, et al.
Publicado: (2010)

Determinants of Disease Penetrance in PRPF31-Associated Retinopathy
por: McLenachan, Samuel, et al.
Publicado: (2021)

Dominant PRPF31 Mutations Are Hypostatic to a Recessive CNOT3 Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of “Linked Trans-Acting Epistasis”
por: Rose, Anna M, et al.
Publicado: (2013)

A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese family
por: Wang, Li, et al.
Publicado: (2011)

Two novel PRPF31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa
por: Dong, Bing, et al.
Publicado: (2013)

Retinitis pigmentosa–associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule cells
por: Krausová, Michaela, et al.
Publicado: (2023)

Temporal and Tissue Specific Regulation of RP-Associated Splicing Factor Genes PRPF3, PRPF31 and PRPC8—Implications in the Pathogenesis of RP
por: Cao, Huibi, et al.
Publicado: (2011)

Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells
por: Arzalluz-Luque, Ángeles, et al.
Publicado: (2021)

Screening and Functional Analysis of TEK Mutations in Chinese Children With Primary Congenital Glaucoma
por: Qiao, Yunsheng, et al.
Publicado: (2021)

A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT
por: Rose, Anna M., et al.
Publicado: (2013)

Aberrant Retinal Pigment Epithelial Cells Derived from Induced Pluripotent Stem Cells of a Retinitis Pigmentosa Patient with the PRPF6 Mutation
por: Liang, Yuqin, et al.
Publicado: (2022)

P1342: THE IMPACT OF CLONAL HEMATOPOIESIS ON THE RISK OF SEVERE COVID-19 INFECTION
por: Saiki, Ryunosuke, et al.
Publicado: (2023)

Gene therapy in animal models of autosomal dominant retinitis pigmentosa
por: Rossmiller, Brian, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_ladi1cf7dvbgsqlqcglbjt21lj