ArticleFrontiers in genetics2019
Targeted Next Generation Sequencing Revealed a Novel Homozygous
Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.
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Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it, 431 citations in OpenAlex.
- Systematic Review of Genetic Substrate Reduction Therapy in Lysosomal Storage Diseases: Opportunities, Challenges and Delivery Systems.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2024Pooled it
- Comprehensive functional network analysis and screening of deleterious pathogenic variants in non-syndromic hearing loss causative genes.Bioscience reports · 2021Pooled it
- Mutation Spectrum and Novel Rare Variants in a Han Chinese Hearing Loss Cohort Using a Tiered Sequencing Strategy.Molecular genetics & genomic medicine · 2026Article
- From mechanism to medicine: CRISPR‒Cas9 delivery strategies, therapeutic applications and translation challenges.Discover nano · 2026Review
- Differential expression of long-noncoding RNAs under drought stress in tomato (Solanum lycopersicum).Molecular biology reports · 2026Article
- Integrating the milk microbiome signatures in mastitis: milk-omics and functional implications.World journal of microbiology & biotechnology · 2025Review
- Case report: A novel nonsense mutation in theFrontiers in genetics · 2024Article
- Human-specific evolutionary markers linked to foetal neurodevelopment modulate brain surface area in schizophrenia.Communications biology · 2023Article
- Article
- Geography vs. past climate: the drivers of population genetic structure of the Himalayan langur.BMC ecology and evolution · 2022Article
- Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.Journal of pediatric genetics · 2022Review
- Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China.Journal of clinical laboratory analysis · 2021Article
- A novel mutation in NF1 gene of patient with Neurofibromatosis type 1: A case report and functional study.Molecular genetics & genomic medicine · 2021Article
- Predictors of cervical myelopathy and hydrocephalus in young children with achondroplasia.Orphanet journal of rare diseases · 2021Article
- Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in theFrontiers in genetics · 2020Article
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary hearing impairment is one of the major and common birth defects in Chinese population. Non-syndromic sensorineural hearing loss (NSHL) is the most common types of hereditary hearing impairment. Genotypically and phenotypically NSHL is extremely heterogenous and follow either autosomal dominant or autosomal recessive or X-linked mode of inheritance. Presently, 127 genes have been identified to be associated with both syndromic and (NSHL). Here, we studied a Chinese family with moderate and profound hearing impairment. The proband is a 30-year old Chinese man. The proband was born with normal hearing and at the age of 5-years, the proband was first noticed with hearing impairment. Gradually and progressively the proband was presented with loss of hearing in his both right and left ears at the age of 30 years. The clinical symptoms, age of onset or progression to loss of hearing was similar in both the proband and his younger brother. The proband's parents are phenotypically normal and non-consanguineous. Clinical diagnosis of the proband and his younger brother has been done by classical pure tone audiogram (PTA). Computed Tomography (CT) found no abnormality in bilateral external ear, middle ear and inner ear. Targeted next generation sequencing was performed with a panel of 127 genes reported to be associated with hereditary hearing impairment. A novel homozygous single nucleotide deletion (c.427delT) in exon 4 of
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