A5102804461- Hearing, Cochlea, Tinnitus, Genetics
- Vestibular and auditory disorders
- RNA regulation and disease
- Ear Surgery and Otitis Media
- Congenital heart defects research
- Cancer-related molecular mechanisms research
- Hearing Loss and Rehabilitation
- Genetics and Neurodevelopmental Disorders
- Neuroscience of respiration and sleep
- Mitochondrial Function and Pathology
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Cellular transport and secretion
- Connexins and lens biology
- RNA and protein synthesis mechanisms
- Growth Hormone and Insulin-like Growth Factors
- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Meat and Animal Product Quality
- Erythrocyte Function and Pathophysiology
- interferon and immune responses
- Retinopathy of Prematurity Studies
- Protein Tyrosine Phosphatases
- Ion channel regulation and function
- RNA modifications and cancer
- Immune Response and Inflammation
Honghe University
2024
Wannan Medical College
2024
Chinese PLA General Hospital
2014-2023
Chinese People's Liberation Army
2019-2022
Chinese Academy of Agricultural Sciences
2022
National Clinical Research
2020
National Clinical Research Center for Digestive Diseases
2020
Ministry of Education of the People's Republic of China
2020
Taian City Central Hospital
2018
Air Force General Hospital PLA
2017-2018
Haploinsufficiency of the ATP6V1B2, a subunit V-ATPases, underlies genetic disorders including Dominant deafness-onychodystrophy (DDOD), deafness, onychodystrophy, osteodystrophy, mental retardation and seizures (DOORS), Zimmermann-Laband syndromes, all characterized by congenital hearing loss onychodystrophy. Effective therapies for ATP6V1B2-associated remain elusive. The study generates hair cell-specific knockout mouse (Atp6v1b2fl/fl;Atoh1Cre/+) recapitulating human phenotypes, with...
Each year in China, 30,000 babies are born with congenital hearing impairment. However, the molecular etiology of impairment Yunnan Province population where more than 52 minorities live has not been thoroughly investigated. To provide appropriate genetic testing and counseling to these families, we investigated nonsyndromic deafness this population.Unrelated students loss (n = 235) who attended Kunming Huaxia secondary specialized school enrolled study. Three prominent deafness-related...
Abstract Hereditary hearing loss is a monogenic disease with high genetic heterogeneity. Variants in more than 100 deafness genes underlie the basis of its pathogenesis. The aim this study was to assess ratio SNVs known contributing etiology both sporadic and familial sensorineural patients from China. DNA samples 1127 individuals, including normal controls ( n = 616), SNHL 433), deaf individuals 78) 30 pedigrees were collected. NGS tests included analysis sequence alterations 129 genes....
Abstract Hereditary hearing loss is genetically heterogeneous, with diverse clinical manifestations. Here we performed targeted genome sequencing of 227 related genes in 1027 patients bilateral and 520 healthy volunteers normal to comprehensively identify the molecular etiology hereditary a large cohort from China. We obtained diagnostic rate 57.25% (588/1027) for patients, while 4.67% (48/1027) were identified uncertain diagnoses. Of implicated 35 genes, three common including SLC26A4...
Hereditary nonsyndromic hearing loss is highly heterogeneous and most patients with a presumed genetic etiology lack specific diagnosis. It has been estimated that several hundred genes may be associated this sensory deficit in humans. Here, we identified compound heterozygous mutations the TMC1 gene as cause of recessively inherited sensorineural by using whole-exome sequencing family two deaf siblings. Sanger confirmed both siblings missense mutation, c.589G>A p.G197R (maternal allele),...
Abstract Background Inherited genetic defects play an important role in congenital hearing loss, contributing to about 60% of deafness occurring infants. Hereditary nonsyndromic loss is highly heterogeneous, and most patients with a presumed etiology lack specific molecular diagnosis. Methods By whole exome sequencing, we identified responsible gene family 4794 autosomal recessively (ARNSHL). We also used DNA from 56 Chinese familial ARNSHL (autosomal recessive loss) 108 ethnicity-matched...
Genetic factors play an important role in hearing loss, contributing to approximately 60 % of cases congenital loss. Autosomal dominant deafness accounts for 20 hereditary Diseases with autosomal inheritance often show pleiotropy, different degrees penetrance, and variable expressivity. A three-generation Chinese family nonsyndromic impairment (ADNSHI) was enrolled this study. Audiometric data blood samples were collected from the family. In total, 129 known human genes sequenced using...
Hereditary hearing loss is characterized by a high degree of genetic heterogeneity. Mutations in the TMPRSS3 (transmembrane protease, serine 3) gene cause prelingual (DFNB10) or postlingual (DFNB8) deafness. In our previous study, three pathogenic mutations were identified one Chinese family. To evaluate importance recessive deafness among Chinese, we screened 150 autosomal nonsyndromic (ARNSHL) families and 6 that carried seven causative mutations, including five novel (c.809T>A,...
Background Hereditary sensorineural hearing loss is a genetically heterogeneous disorder. Objectives This study was designed to explore the genetic etiology of deafness in large Chinese family with autosomal dominant, nonsyndromic, progressive (ADNSHL). Methods Whole exome sequencing and linkage analysis were performed identify pathogenic mutation. Inner ear expression Ifnlr1 investigated by immunostaining mice. ifnlr1 Morpholino knockdown Zebrafish constructed mechanism. Results We...
Hearing loss is one of the most common birth defects, with inherited genetic defects play an important role, contributing to about 60% deafness occurring in infants. However, hearing impairment genetically heterogeneous, both and rare forms due mutations estimated 500 genes. Due large number presumably low mutation frequencies those genes, it would be highly expensive time-consuming address this issue by conventional gene-by-gene Sanger sequencing. Next-generation sequencing a revolutionary...
Autosomal recessive hearing impairment with postlingual onset is rare. Exceptions are caused by mutations in the TMPRSS3 gene, which can lead to prelingual (DFNB10) as well deafness (DFNB8). be classified mild or severe, and phenotype dependent on combination of mutations. The two severe leads profound a onset, whereas milder onset. We characterized Chinese family (number FH1523) not only but also impairment. Three , one novel mutation c.36delC [p.(Phe13Serfs<mml:math...
Mutations in PTPRQ are associated with deafness humans due to defects of stereocilia hair cells. Using whole exome sequencing, we identified responsible gene family 1572 autosomal recessively non-syndromic hearing loss (ARNSHL). We also used DNA from 74 familial patients ARNSHL and 656 ethnically matched control chromosomes perform extended variant analysis. two novel compound heterozygous missense mutations, c. 3125 A>G p.D1042G (maternal allele) c.5981 p.E1994G (paternal allele), the gene,...
Hereditary nonsyndromic hearing loss is extremely heterogeneous. Mutations in the transmembrane channel-like gene1 (TMC1) are known to cause autosomal dominant and recessive forms of linked loci DFNA36 DFNB7/11, respectively. We characterized a six-generation Chinese family (5315) with progressive, postlingual (ADNSHL). By combining targeted capture 82 deafness genes, next-generation sequencing bioinformatic analysis, we identified TMC1 c.1714G>A (p. D572N) as disease-causing mutation. This...
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...
Many X-linked non-syndromic hearing loss (HL) cases are caused by various mutations in the POU domain class 3 transcription factor 4 (POU3F4) gene. This study aimed to identify allelic variants of this gene two Chinese families displaying inheritance deafness-2 (DFNX2) and one sporadic case with indefinite pattern. Direct DNA sequencing POU3F4 was performed these 100 individuals normal hearing. There characteristic imaging findings DFNX2 mutations. The temporal bone computed tomography (CT)...
Germline variants in PTPN11 are the primary cause of Noonan syndrome with multiple lentigines (NSML) and (NS), which share common skin facial symptoms, cardiac anomalies retardation growth. Hearing loss is considered an infrequent feature patients NSML/NS. However, our cohort, we identified a group pathogenic that were primarily manifested congenital sensorineural hearing (SNHL). This study evaluated incidence PTPN11-related NSML or NS SNHL explored expression underlying mechanisms auditory...
Hereditary nonsyndromic hearing loss is extremely heterogeneous. Mutations in the POU class 4 transcription factor 3 (POU4F3) are known to cause autosomal dominant linked loci of DFNA15. In this study, we describe a pathogenic missense mutation POU4F3 four-generation Chinese family (6126) with midfrequency, progressive, and postlingual (ADNSHL). By combining targeted capture 129 deafness genes, next-generation sequencing, bioinformatic analysis, identified c.602T>C (p.Leu201Pro) as...
Abstract Background Mutations in MPZL2 , the characteristic genetic etiology of autosomal recessive deafness loci 111 (DFNB111), cause non-syndromic and moderate sensorineural hearing loss. Methods In this study, we analyzed phenotype genotype eight pedigrees consisting 10 loss patients with bi-allelic pathogenic or likely variants . These were identified from a 3272 Chinese patient cohort who underwent testing. Results Apart symmetrical loss, -related was characterized by progressive...
Mitochondrial transfer RNA mutation is one of the most important causes hereditary hearing loss in humans. RNASer (UCN) gene another hot spot for mutations associated with non-syndromic loss, besides 12S ribosomal gene. In this study, we assessed clinical phenotype and molecular characteristics two Chinese families loss. Mutational analysis revealed that 7445A > G 7510T C mitochondrial were etiology Family 1 2, respectively. However, genetic carrying above exhibited a variable expression an...