Cargando…

Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing

Hearing loss is one of the most common sensory disorders in humans. This study proposes a stepwise strategy of deafness gene detection using multiplex PCR combined with high-throughput sequencing, Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), and whole-exome sequencing...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zeng, Beiping, Xu, Hongen, Yu, Yanan, Li, Siqi, Tian, Yongan, Li, Tiandong, Yang, Zengguang, Wang, Haili, Wang, Guangke, Chang, Mingxiu, Tang, Wenxue
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9768221/ https://www.ncbi.nlm.nih.gov/pubmed/36568381 http://dx.doi.org/10.3389/fgene.2022.1057293

Ejemplares similares

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

High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing
por: Zhang, Sen, et al.
Publicado: (2021)

Early truncation of the N‐terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype
por: Mi, Yanfang, et al.
Publicado: (2020)

Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto Syndrome
por: Feng, Haifeng, et al.
Publicado: (2021)

Gene4HL: An Integrated Genetic Database for Hearing Loss
por: Huang, Shasha, et al.
Publicado: (2021)

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype
por: Li, Jinying, et al.
Publicado: (2021)

Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder
por: Kovač, Jernej, et al.
Publicado: (2017)

The genetic contribution of the X chromosome in age-related hearing loss
por: Naderi, Elnaz, et al.
Publicado: (2023)

A New Stepwise Molecular Work-Up After Chorionic Villi Sampling in Women With an Early Pregnancy Loss
por: Pauta, Montse, et al.
Publicado: (2021)

Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach
por: Wang, Jing, et al.
Publicado: (2021)

Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next‐generation sequencing of the SLC26A4 gene
por: Tian, Yongan, et al.
Publicado: (2021)

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

Next-generation sequencing improves precision medicine in hearing loss
por: Imizcoz, T., et al.
Publicado: (2023)

Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy
por: Whatley, Meg, et al.
Publicado: (2020)

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

A novel heterozygous SIX1 missense mutation resulted in non-syndromic unilateral hearing loss
por: Li, Ang, et al.
Publicado: (2022)

An Update on Phosphodiesterase Mutations Underlying Genetic Etiology of Hearing Loss and Retinitis Pigmentosa
por: Mittal, Rahul, et al.
Publicado: (2018)

Excess of Rare Missense Variants in Hearing Loss Genes in Sporadic Meniere Disease
por: Gallego-Martinez, Alvaro, et al.
Publicado: (2019)

Bilateral Nonsyndromic Sensorineural Hearing Loss Caused by a NARS2 Mutation
por: Al-Sharif, Fawzia, et al.
Publicado: (2022)

Identification of four novel variants in the CDH23 gene from four affected families with hearing loss
por: Kang, Baoling, et al.
Publicado: (2022)

Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders
por: Gao, Chao, et al.
Publicado: (2019)

Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease
por: Tan, Meihua, et al.
Publicado: (2022)

Assessing the causal relationships between human blood metabolites and the risk of NAFLD: A comprehensive mendelian randomization study
por: Guo, Ziwei, 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)

Systematic Transcriptome Analysis of Noise-Induced Hearing Loss Pathogenesis Suggests Inflammatory Activities and Multiple Susceptible Molecules and Pathways
por: Wang, Quan, et al.
Publicado: (2020)

Case Report: Exome Sequencing Identified Variants in Three Candidate Genes From Two Families With Hearing Loss, Onychodystrophy, and Epilepsy
por: Li, Yuan, et al.
Publicado: (2021)

Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families
por: Sang, Shushan, et al.
Publicado: (2019)

ASDmiR: A Stepwise Method to Uncover miRNA Regulation Related to Autism Spectrum Disorder
por: Xiong, Chenchen, et al.
Publicado: (2020)

Recent advances and future challenges in gene therapy for hearing loss
por: Amariutei, Ana E., et al.
Publicado: (2023)

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders
por: Colin, Estelle, et al.
Publicado: (2023)

Association of αENaC p. Ala663Thr Gene Polymorphism With Sudden Sensorineural Hearing Loss
por: Chen, Jialei, et al.
Publicado: (2021)

Case Report: Novel Heterozygous DFNA5 Splicing Variant Responsible for Autosomal Dominant Non-syndromic Hearing Loss in a Chinese Family
por: Chen, Xi, et al.
Publicado: (2020)

Polymorphisms of nucleotide excision repair genes associated with colorectal cancer risk: Meta-analysis and trial sequential analysis
por: Yi, Chuncheng, et al.
Publicado: (2022)

Stepwise or Linear Decrease in Penetrance of Type 1 Diabetes With Lower-Risk HLA Genotypes Over the Past 40 Years
por: Steck, Andrea K., et al.
Publicado: (2011)

Exploring the RNA Gap for Improving Diagnostic Yield in Primary Immunodeficiencies
por: Lye, Jed J., et al.
Publicado: (2019)

Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss
por: Pique, Lynn M., et al.
Publicado: (2014)

Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia
por: Zhang, Lily, et al.
Publicado: (2020)

Identification of Novel and Recurrent Variants in MYO15A in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss
por: Booth, Kevin T., et al.
Publicado: (2021)

Corrigendum: Association of αENaC p. Ala663Thr Gene Polymorphism With Sudden Sensorineural Hearing Loss
por: Chen, Jialei, et al.
Publicado: (2022)

A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update
por: Gao, Yajuan, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_s4f72g6qnhebno4clfq9rllkli