Cargando…

Case report: Novel GJB2 variant c.113T>C associated with autosomal recessive non-syndromic hearing loss (ARNSHL) in a Han family

RATIONALE: Molecular mechanism underlying the autosomal recessive non-syndromic hearing loss (ARNSHL) is still plausible. Pathogenic mutations of the gap junction beta 2 protein (GJB2) are reported to be the primary causes of ARNSHL. PATIENT CONCERNS: A propositus was diagnosed as ARNSHL with bilate...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lan, Xinqiang, Sun, Shiyu, Lan, Xin, Niu, Linyuan, Zhang, Chunxiao, Chen, Xiaoli, Xia, Ningning
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2019
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6922571/ https://www.ncbi.nlm.nih.gov/pubmed/31852093 http://dx.doi.org/10.1097/MD.0000000000018253

Ejemplares similares

GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran
por: Abbaspour Rodbaneh, Ehsan, et al.
Publicado: (2021)

Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?
por: Kim, So Young, et al.
Publicado: (2016)

Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report
por: Huang, Xinyi, et al.
Publicado: (2022)

Mutation Screening of Exons 7 and 13 of the TMC1 Gene in Autosomal Recessive Non-syndromic Hearing Loss (ARNSHL) in Iran
por: Moradipour, Negar, et al.
Publicado: (2016)

Kallmann syndrome with a Tyr113His PROKR2 mutation
por: Ha, Jeong-Ha, et al.
Publicado: (2017)

Evaluation of the GJB2 and GJB6 Polymorphisms with Autosomal Recessive Nonsyndromic Hearing Loss in Iranian Population
por: Ebrahimkhani, Somayeh, et al.
Publicado: (2021)

Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss
por: Grillo, Ana Paula, et al.
Publicado: (2015)

X-linked Charcot–Marie–Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report
por: Kim, Jin Kyu, et al.
Publicado: (2017)

The association of single nucleotide polymorphism rs189037C>T in ATM gene with coronary artery disease in Chinese Han populations: A case control study
por: Ding, Xiang, et al.
Publicado: (2018)

GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder
por: Xia, Hong, et al.
Publicado: (2019)

CYP2C19, PON1, and ABCB1 gene polymorphisms in Han and Uygur populations with coronary artery disease in Northwestern Xinjiang, China, From 2014 Through 2019
por: Wang, Tingting, et al.
Publicado: (2020)

C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report
por: Zhang, Yan, et al.
Publicado: (2020)

Association between BACE1 gene polymorphisms and focal seizures in a Chinese Han population
por: Yang, Guangsheng, et al.
Publicado: (2018)

A mutation of EYA1 gene in a Chinese Han family with Branchio-Oto syndrome
por: Han, Rui, et al.
Publicado: (2021)

Association of S100B 3’UTR polymorphism with risk of chronic heart failure in a Chinese Han population
por: Chen, Yuewu, et al.
Publicado: (2020)

Value of Chromosome 9p21 Polymorphism for Prediction of Cardiovascular Mortality in Han Chinese Without Coronary Lesions: An Observational Study
por: Lee, I-Te, et al.
Publicado: (2015)

Correlation between SHBG gene polymorphism and male infertility in Han population of Henan province of China: A STROBE-compliant article
por: Cui, Yuan-rong, et al.
Publicado: (2017)

GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon
por: Tingang Wonkam, Edmond, et al.
Publicado: (2019)

Association of single-nucleotide polymorphisms of CDH1 with nonsyndromic cleft lip with or without cleft palate in a northern Chinese Han population
por: Song, Hongquan, et al.
Publicado: (2017)

Association of IL12A Expression Quantitative Trait Loci (eQTL) With Primary Biliary Cirrhosis in a Chinese Han Population
por: Li, Ping, et al.
Publicado: (2016)

Five known tagging DLL3 SNPs are not associated with congenital scoliosis: A case–control association study in a Chinese Han population
por: Yang, Yong, et al.
Publicado: (2016)

Genetic Variation in Metastasis-Associated in Colon Cancer-1 and the Risk of Breast Cancer Among the Chinese Han Population: A STROBE-Compliant Observational Study
por: Dai, Zhi-Jun, et al.
Publicado: (2016)

Association between genetic polymorphism of telomere-associated gene ACYP2 and the risk of HAPE among the Chinese Han population: A Case–control study
por: Zhu, Linhao, et al.
Publicado: (2017)

The haplotypes GCA and ACA in ESR1 gene are associated with the susceptibility of recurrent spontaneous abortion (RSA) in Chinese Han: A case-control study and meta-analysis
por: Tang, Liang, et al.
Publicado: (2022)

Genetic testing involving 100 common mutations for antenatal diagnosis of hereditary hearing loss in Chongqing, China
por: Hu, Hua, et al.
Publicado: (2021)

CLPTM1L Genetic Polymorphisms and Interaction With Smoking and Alcohol Drinking in Lung Cancer Risk: A Case–Control Study in the Han Population From Northwest China
por: Xun, Xiaojie, et al.
Publicado: (2014)

Association of ERBB4 genetic polymorphism with the risk and prognosis of non-small cell lung cancer in Chinese Han population: A population-based case–control study
por: Wang, Wan-ping, et al.
Publicado: (2021)

A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report
por: Tao, Tian, et al.
Publicado: (2020)

Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis
por: Lu, Ya-Jie, et al.
Publicado: (2015)

Role of surfactant protein C in neonatal genetic disorders of the surfactant system: A case report
por: Tan, Ya-Xin, et al.
Publicado: (2021)

Effect of MDR1 C1236T polymorphism on cyclosporine pharmacokinetics: A systematic review and meta-analysis
por: Chen, Zhe, et al.
Publicado: (2017)

Association between MDR1 C3435T polymorphism and colorectal cancer risk: A meta-analysis
por: Jin, Shan-Shan, et al.
Publicado: (2017)

Investigation of the IL-1β +3954 C>T polymorphism and the risk of sepsis: A case-control study
por: Fu, Peng, et al.
Publicado: (2020)

Cytochrome P450 2C19 enzyme, Cytochrome P450 2C9 enzyme, and Cytochrome P450 2D6 enzyme allelic variants and its possible effect on drug metabolism: A retrospective study
por: Naujokaitis, Domas, et al.
Publicado: (2021)

The Effects of CYP2C19 genotype on the susceptibility for nephrosis in cardio-cerebral vascular disease treated by anticoagulation
por: Chang, Kai, et al.
Publicado: (2016)

The cGAS-STING pathway-related gene signature can predict patient prognosis and immunotherapy responses in prostate adenocarcinoma
por: Zhuo, Xingxing, et al.
Publicado: (2022)

Association between PRKAA1 rs13361707 T>C polymorphism and gastric cancer risk: Evidence based on a meta-analysis
por: Jiang, You, et al.
Publicado: (2018)

The relationship between VEGF-460(T>C) polymorphism and cancer risk: A systematic review and meta-analysis based on 46 reports
por: Qin, Haoran, et al.
Publicado: (2023)

Bohring-Opitz syndrome caused by a novel ASXL1 mutation (c.3762delT) in an IVF baby: A case report
por: Wang, Dongbo, et al.
Publicado: (2022)

Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review
por: Zhang, Zhaorui, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_tord78ju4lj9k1ef1g89ff0qtb