Cargando…

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families

BACKGROUND: Usher syndrome (USH) is a leading disorder of deaf–blindness. The phenotypic and genetic heterogeneity of USH makes the diagnosis of this disorder difficult. However, diagnosis can be facilitated by employing molecular approaches, especially for diseases without pronounced pathognomonic...

Descripción completa

Detalles Bibliográficos
Autores principales:	Xing, Dongjun, Yu, Rongguo, Wang, Linni, Hu, Liying, Yang, Yang, Li, Chang, Li, Zhiqing, Li, Xiaorong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9308926/ https://www.ncbi.nlm.nih.gov/pubmed/35870892 http://dx.doi.org/10.1186/s12886-022-02532-6

Ejemplares similares

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report
por: Xing, Dongjun, et al.
Publicado: (2020)

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II
por: Dai, Hanjun, et al.
Publicado: (2008)

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families
por: Huang, Xiu-Feng, et al.
Publicado: (2013)

Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population
por: Huang, Lulin, et al.
Publicado: (2018)

Novel mutations in the USH1C gene in Usher syndrome patients
por: Aparisi, María José, et al.
Publicado: (2010)

Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family
por: Liu, Xiaowen, et al.
Publicado: (2010)

USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families
por: Ahmed, Asif Naveed, et al.
Publicado: (2021)

Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II
por: Xu, Wenjun, et al.
Publicado: (2011)

Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome
por: Shu, Hai-Rong, et al.
Publicado: (2015)

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients
por: Jiang, Lichun, et al.
Publicado: (2015)

Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family
por: ZHENG, SUI-LIAN, et al.
Publicado: (2015)

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1
por: Rizel, Leah, et al.
Publicado: (2011)

Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2
por: He, Chenhao, et al.
Publicado: (2020)

Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome
por: Li, Wei, et al.
Publicado: (2022)

Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing
por: Qu, Ling-hui, et al.
Publicado: (2020)

A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II
por: Boo, Sung Hyun, et al.
Publicado: (2013)

Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients
por: Ng, Tsz Kin, et al.
Publicado: (2019)

Peripheral Anomalies in USH2A Cause Central Auditory Anomalies in a Mouse Model of Usher Syndrome and CAPD
por: Perrino, Peter A., et al.
Publicado: (2021)

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa
por: García-García, Gema, et al.
Publicado: (2014)

A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family
por: Fu, Jiewen, et al.
Publicado: (2020)

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids
por: Sanjurjo-Soriano, Carla, et al.
Publicado: (2023)

MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome
por: Sodi, Andrea, et al.
Publicado: (2014)

Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon
por: Jaffal, Lama, et al.
Publicado: (2022)

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report
por: Young, Su Ling, et al.
Publicado: (2022)

Usher syndrome proteins ADGRV1 (USH2C) and CIB2 (USH1J) interact and share a common interactome containing TRiC/CCT-BBS chaperonins
por: Linnert, Joshua, et al.
Publicado: (2023)

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula
por: Khan, Arif O., et al.
Publicado: (2017)

Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1
por: Liu, Fei, et al.
Publicado: (2013)

EIAV-Based Retinal Gene Therapy in the shaker1 Mouse Model for Usher Syndrome Type 1B: Development of UshStat
por: Zallocchi, Marisa, et al.
Publicado: (2014)

Clinical Presentation of Usher Syndrome Type 1B (USH1B) in a 10-Month-Old: A Case Report
por: Filson, Meghan J, et al.
Publicado: (2023)

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations
por: Garcia-Garcia, Gema, et al.
Publicado: (2011)

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A
por: Mansard, Luke, et al.
Publicado: (2021)

Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush
por: Fakin, Ana, et al.
Publicado: (2021)

Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole-exome sequencing
por: Fu, Yue-Chuan, et al.
Publicado: (2018)

Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA
por: Fu, Jiewen, et al.
Publicado: (2020)

USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1
por: Jaworek, Thomas J., et al.
Publicado: (2012)

SANS (USH1G) Molecularly Links the Human Usher Syndrome Protein Network to the Intraflagellar Transport Module by Direct Binding to IFT-B Proteins
por: Sorusch, Nasrin, et al.
Publicado: (2019)

Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations
por: Samanta, Ananya, et al.
Publicado: (2019)

Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family
por: Gao, Xue, et al.
Publicado: (2014)

Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy
por: Čadonič, Katja, et al.
Publicado: (2023)

USH2A Mutation is Associated With Tumor Mutation Burden and Antitumor Immunity in Patients With Colon Adenocarcinoma
por: Sun, Yuanyuan, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_pkuuk7npt33oqac545m1uchidb