Cargando…

A novel LOXHD1 variant in a Chinese couple with hearing loss

OBJECTIVE: To perform molecular diagnosis and genetic counseling in a young Chinese couple with congenital hearing loss. METHODS: Variant screening analysis was performed by PCR and direct Sanger sequencing or targeted next-generation sequencing of all known hearing loss genes. Novel variants were e...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhang, Chuan, Hao, Shengju, Liu, Yali, Zhou, Bingbo, Liu, Furong, Zheng, Lei, Ma, Panpan, Liu, Qing, Lin, Xiaojuan, Yan, Yousheng, Zhang, Qinghua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2019
Materias:	Clinical Research Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045666/ https://www.ncbi.nlm.nih.gov/pubmed/31709873 http://dx.doi.org/10.1177/0300060519884197

Ejemplares similares

Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss
por: Hytönen, Marjo K., et al.
Publicado: (2021)

Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss
por: Wang, Wei-Qian, et al.
Publicado: (2022)

Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family
por: Shen, Na, et al.
Publicado: (2019)

Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort
por: Maekawa, Karuna, et al.
Publicado: (2019)

Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families
por: Bai, Xiaohui, et al.
Publicado: (2020)

Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia
por: Zhang, Chuan, et al.
Publicado: (2020)

Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing
por: Zhang, Chuan, et al.
Publicado: (2023)

Corrigendum to “Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families”
por: Bai, Xiaohui, et al.
Publicado: (2020)

The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China
por: Zhang, Chuan, et al.
Publicado: (2023)

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients
por: Zhang, Chuan, et al.
Publicado: (2020)

Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome
por: Zhang, Chuan, et al.
Publicado: (2020)

Compound heterozygous variants of the FBXO7 gene resulting in infantile‐onset Parkinsonian‐pyramidal syndrome in siblings of a Chinese family
por: Jin, Xiaohua, et al.
Publicado: (2020)

Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics
por: Wang, Yupei, et al.
Publicado: (2022)

Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness
por: Tian, Xinyuan, et al.
Publicado: (2022)

Variant analysis of 92 Chinese Han families with hearing loss
por: Jin, Xiaohua, et al.
Publicado: (2022)

Loxhd1 Mutations Cause Mechanotransduction Defects in Cochlear Hair Cells
por: Trouillet, Alix, et al.
Publicado: (2021)

Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment
por: Zhou, Bingbo, et al.
Publicado: (2021)

Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder
por: Morlet, T., et al.
Publicado: (2021)

Loxhd1b inhibits the hair cell development in zebrafish: Possible relation to the BDNF/TrkB/ERK pathway
por: Liu, Jingwen, et al.
Publicado: (2022)

Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II
por: Zhang, Chuan, et al.
Publicado: (2021)

Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs’ endothelial corneal dystrophy
por: Tsedilina, Tatiana Romanovna, et al.
Publicado: (2023)

Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS
por: Yan, Yousheng, et al.
Publicado: (2020)

Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy
por: Chuan, Zhang, et al.
Publicado: (2022)

Whole-exome sequencing of de novo genetic variants in a Chinese family with a sporadic case of congenital nonsyndromic hearing loss
por: Hu, Sijing, et al.
Publicado: (2021)

Oncofusion-driven de novo enhancer assembly promotes malignancy in Ewing sarcoma via aberrant expression of the stereociliary protein LOXHD1
por: Deng, Qu, et al.
Publicado: (2022)

Identification of novel cadherin 23 variants in a Chinese family with hearing loss
por: Xu, Tianni, et al.
Publicado: (2019)

Extensive hearing loss induced by low‐frequency noise exposure
por: Liu, Junping, et al.
Publicado: (2022)

Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province
por: Luo, Haiyan, et al.
Publicado: (2022)

The Role of Genetic Variants in the Susceptibility of Noise-Induced Hearing Loss
por: Chen, Xue-min, et al.
Publicado: (2022)

Delta Variant of Covid-19 and Hearing Loss
por: Umashankar, Abishek, et al.
Publicado: (2023)

Preimplantation genetic testing for hereditary hearing loss in Chinese population
por: Bi, Qingling, et al.
Publicado: (2023)

Associations between age-related hearing loss, cognitive decline, and depression in Chinese centenarians and oldest-old adults
por: Feng, Long, et al.
Publicado: (2022)

G protein-coupled receptors in cochlea: Potential therapeutic targets for hearing loss
por: Ma, Xiangyu, et al.
Publicado: (2022)

Whole-Exome Sequencing to Decipher the Genetic Heterogeneity of Hearing Loss in a Chinese Family with Deaf by Deaf Mating
por: Qing, Jie, et al.
Publicado: (2014)

A common variant in AAK1 reduces risk of noise-induced hearing loss
por: Wang, Qixuan, et al.
Publicado: (2023)

A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family
por: Zeng, Beiping, et al.
Publicado: (2022)

Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss
por: Hu, Songqun, et al.
Publicado: (2018)

Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss
por: Yang, Ziying, et al.
Publicado: (2023)

Correction to: Preimplantation genetic testing for hereditary hearing loss in Chinese population
por: Bi, Qingling, et al.
Publicado: (2023)

Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family
por: An, Jinxia, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_g19uujmlratc5lic3812pjd4g6