Cargando…

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

Usher syndrome refers to a group of genetically and clinically heterogeneous autosomal recessive diseases with retinitis pigmentosa (RP) and hearing deficiencies. The association between Usher syndrome-causative genes and resultant Usher syndrome phenotypes in patients are highly variable. In the pr...

Descripción completa

Detalles Bibliográficos
Autores principales:	Fu, Jiewen, Cheng, Jingliang, Zhou, Qi, Khan, Md. Asaduzzaman, Duan, Chengxia, Peng, Jiangzhou, Lv, Hongbin, Fu, Junjiang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2020
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7453661/ https://www.ncbi.nlm.nih.gov/pubmed/32945453 http://dx.doi.org/10.3892/mmr.2020.11400

Ejemplares similares

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)

Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient
por: Zhang, Lianmei, et al.
Publicado: (2020)

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

A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree
por: Cheng, Jingliang, et al.
Publicado: (2019)

Identification of a novel germline BRCA2 variant in a Chinese breast cancer family
por: Cheng, Jingliang, et al.
Publicado: (2019)

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

Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree
por: Wei, Chunli, et al.
Publicado: (2020)

A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS‐based genetic diagnosis
por: Fu, Jiewen, et al.
Publicado: (2018)

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

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

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

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

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families
por: Xing, Dongjun, et al.
Publicado: (2022)

New progresses on cell surface protein HSPA5/BiP/GRP78 in cancers and COVID-19
por: Li, Ting, et al.
Publicado: (2023)

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

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

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

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

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

A novel missense variant c.G644A (p.G215E) of the RPGR gene in a Chinese family causes X-linked retinitis pigmentosa
por: Fu, Jiewen, et al.
Publicado: (2019)

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)

Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1
por: Yang, Lisha, et al.
Publicado: (2023)

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

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

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)

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)

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)

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)

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)

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

Roles of MicroRNA-34a in Epithelial to Mesenchymal Transition, Competing Endogenous RNA Sponging and Its Therapeutic Potential
por: Nie, Dongsong, et al.
Publicado: (2019)

A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing
por: Wei, Chunli, et al.
Publicado: (2018)

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)

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)

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

Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing
por: Zhou, Qi, et al.
Publicado: (2015)

Hearing aid fitting for visual and hearing impaired patients with Usher syndrome type IIa
por: Hartel, B.P., et al.
Publicado: (2016)

Genetic polymorphism of 19 autosomal STR loci in the Yi ethnic minority of Liangshan Yi autonomous prefecture from Sichuan province in China
por: Cheng, Jingliang, et al.
Publicado: (2021)

Genetic Polymorphism and Population Genetic Structure Analysis of 21 Autosomal STR Loci for a Han-Chinese Population from Luzhou of Southwest China
por: Song, Binghui, et al.
Publicado: (2023)

Thymoquinone upregulates IL17RD in controlling the growth and metastasis of triple negative breast cancer cells in vitro
por: Khan, Md. Asaduzzaman, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_6p32ku6rsftah90bsp7aguoc3l