A5100616632- Hearing, Cochlea, Tinnitus, Genetics
- Connexins and lens biology
- Vestibular and auditory disorders
- Ear Surgery and Otitis Media
- Hearing Loss and Rehabilitation
- Ion channel regulation and function
- Bat Biology and Ecology Studies
- Genomics and Rare Diseases
- S100 Proteins and Annexins
- RNA and protein synthesis mechanisms
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Antimicrobial Peptides and Activities
- RNA regulation and disease
- Medical Imaging and Analysis
- Fetal and Pediatric Neurological Disorders
- RNA modifications and cancer
- Child Nutrition and Water Access
- Mitochondrial Function and Pathology
- Vitamin C and Antioxidants Research
- Cellular transport and secretion
- Neuroscience of respiration and sleep
- Obesity, Physical Activity, Diet
- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- RNA Research and Splicing
Nantong Maternity and Child Health Hospital
2021-2025
Nantong University
2021-2025
Second Hospital of Hebei Medical University
2011-2024
Hebei Medical University
2011-2024
Nanjing Medical University
2014
Chinese PLA General Hospital
2007-2012
PurposeMutations in the SLC26A4 gene are second only to GJB2 mutations as a currently identifiable genetic cause of sensorineural hearing loss. In most areas China, testing for loss is unavailable because limited knowledge mutation spectrum. Although c.919-2A>G (IVS7–2A>G) common among some Asian populations, prevalence various ethnic groups within China has not been studied.MethodsDNA specimens from 3271 subjects with moderate profound 27 regions were genotyped by polymerase chain...
Background Hearing loss (HL) is a prevalent sensory impairment with genetic basis. The SLC12A2 gene, encoding NKCC1, vital for inner ear ion balance. c.2930-1G > A variant novel mutation potentially linked to sensorineural hearing loss.
<h3>Importance</h3> Early identification and intervention for newborns with hearing loss (HL) may lead to improved physiological social-emotional outcomes. The current newborn screening is generally beneficial but improvements can be made. <h3>Objective</h3> To assess feasibility evaluate utility of a modified genetic program infants. <h3>Design, Setting, Participants</h3> This population-based cohort study used 4-stage at 6 local hospitals in Nantong city, China. Participants were infants...
Hereditary hearing loss is a heterogeneous class of disorders showing various patterns inheritance and involving many genes. Mutations in the EYA4 gene are responsible for postlingual, progressive, autosomal dominant at DFNA10 locus. We report on Chinese family with sensorineural, progressive loss. Next-generation sequencing (NGS) was conducted using DNA samples from this family. A candidate mutation confirmed by Sanger sequencing. detailed genotype phenotype analysis deafness provided. NGS...
Hereditary non-syndromic hearing loss is the most common inherited sensory defect in humans. The KCNQ4 channel belongs to a family of potassium ion channels that play crucial roles physiology and disease. Mutations underlie deafness autosomal dominant 2, subtype dominant, progressive, high-frequency loss. A six-generation Chinese from Hebei Province with dominantly inherited, sensorineural, postlingual, progressive was enrolled this study. Mutation screening 129 genes associated performed...
Background While global newborn hearing screening programmes (NHSP) are far from the optimal level, combined and genetic has emerged as an innovative approach of early healthcare interventions. There is a clear need for economic evaluation to establish whether deafness gene (NDGS), currently mandated by many cities in China, good investment. Methods A decision-tree model was constructed simulate hypothetical 10-million Chinese cohort over lifetime with three strategies: (1) no screening, (2)...
Abstract Background Mutations in the SLC26A4 gene, which encodes anion transporter, pendrin, are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) some Asian populations. c.919-2A>G (IVS7-2A>G) is most common mutation East deaf To provide basis for improving clinical diagnosis patients, we evaluated 80 patients with monoallelic from 1065 hearing-impaired subjects and reported occurrence second mutant allele these patients. Methods The single was investigated....
Genetic causes account for more than half of congenital hearing loss cases. The most frequent mutations found in non-syndromic patients occur GJB2 and SLC26A4. Mitochondrial genome are also prevalent. However, the frequency common Chinese population has not yet been well estimated. Here, we implemented SNaPshot genotyping method to investigate carrier 15 commonly reported GJB2, SLC26A4 mitochondrial based on a cohort 5800 neonates China. Up 15.9% (923/5800) newborns carry at least one mutant...
Hereditary hearing loss is one of the most common sensory disabilities worldwide. Mutation POU domain class 4 transcription factor 3 (POU4F3) considered pathogenic cause autosomal dominant nonsyndromic (ADNSHL), designated as deafness 15. In this study, four novel variants in POU4F3, c.696G>T (p.Glu232Asp), c.325C>T (p.His109Tyr), c.635T>C (p.Leu212Pro), and c.183delG (p.Ala62Argfs∗22), were identified different Chinese families with ADNSHL by targeted next-generation sequencing Sanger...
To date, seven DFNA5 mutations have been reported in families with autosomal dominant non-syndromic hearing loss worldwide. All the cause exon 8 skipping at mRNA level, that led to protein truncated and could exert a gain of ototoxic function.In this study, we found an autosomal-dominant Chinese pedigree which spanned four generations comprised 43 members. We want identify causative gene mutation.Application microsatellite markers on DFNA 23 loci preliminary screening 25 genes, data were...
To analyse the pathogenic genes and mutations of a family with hereditary deafness. We recruited three-generation NSHL. A detailed medical history inquiry related examinations were performed. Next-generation sequencing (NGS) was used to confirm gene mutation in proband, Sanger for verification. The effect WFS1 on function structure wolframin protein predicted by multiple computational software. From Gene Expression Omnibus (GEO) database, we obtained GSE40585 dataset performed enrichment...
To study the molecular pathogenesis of SLC26A4 mutations associated with inner ear malformations including large vestibular aqueduct syndrome (LVAS), Mondini dysplasia and but not accompanied LVAS.DNA sample clinical material were obtained from 14 sporadic LVAS probands, six probands seven excluding IVAS probands. gene mutation was analyzed by direct sequencing for its 20 coding exons. GJB2 also mt12SrRNA sequencing.In cases LVAS, two detected in 12 patients (85.7%, either homozygous or...
Abstract Hearing loss is considered one of the most common sensory neurological defects, with approximately 60% cases attributed to genetic factors. Human pathogenic variants in TBC1D24 gene are associated various clinical phenotypes, including dominant nonsyndromic hearing DFNA65, characterized by progressive after development language. This study provides an in-depth analysis causative and mutations a family hereditary deafness. We recruited three-generation autosomal (ADNSHL) conducted...
ABSTRACT Objective This study aimed to assess the application of origin analysis copy number variations (CNVs) in non‐invasive prenatal testing (NIPT) and provide a basis for expanding clinical NIPT. Method We enrolled 35,317 patients who underwent NIPT between January 2019 March 2023. Genome sequencing variation (CNV‐Seq) was performed using CNV calling pipeline identify subchromosomal abnormalities maternal plasma. Genetic determined by comparing chimaerism ratio concentration cell‐free...
Background Retardation among children is a persistent global health concern. Vitamin deficiency in childhood may contribute to growth retardation; however, its causal effects are not fully understood. Objective Here, we aimed explore the prediction values of fat-soluble vitamin levels on GR aged 1–6 years. Methods 614 from 1 6 years at Nantong Maternal and Child Care Health Hospital between January 2021 December 2022 this retrospective observational study participated assessment...
Background Hearing loss is considered one of the most common sensory nervous system defects, about 60% which are caused by genetic factors. Mutations in GSDME gene responsible for post-lingual, progressive, autosomal dominant hearing loss. This study aimed to characterize mutations and clinical features a Chinese family. Methods After evaluations, high-throughput DNA sequencing was conducted using samples from this Sanger performed verify suspected variants. A detailed genotype phenotype...
To investigate the whole sequence of SLC26A4 gene in moderate to profound sensorineural hearing loss (SNHL) patients with IVS7-2A G mutation China.Whole was analyzed by direct sequencing 80 carriers for occurrence a second gene.Forty-seven out were found have heterozygous mutation, whereas single could be responsible SNHL remaining 33 patients. Three novel mutations, 5+ 2T A, 14-2A and 1825del G, identified. The five most common mutations include H723R (20%), T410M(5%), C.1705+ 5G A (15+...
To investigate GJB2 mutation prevalences in the Uigur and Han ethnic groups Xinjiang, China, determine relationship between ethnicity gene mutations. Information regarding of patients’ families was obtained through medical records review and/or patient interview. Blood samples were collected from 61 Uigurs 66 Hans for direct sequencing coding region intron/exon boundaries GBJ2 gene. Carrier frequency mutations similar subjects. The 35delG seen only patients with hearing loss, whereas 235delC...