A5019030375- Hearing, Cochlea, Tinnitus, Genetics
- Vestibular and auditory disorders
- RNA regulation and disease
- Connexins and lens biology
- Hearing Loss and Rehabilitation
- Ear Surgery and Otitis Media
- RNA and protein synthesis mechanisms
- Neuroscience of respiration and sleep
- Nicotinic Acetylcholine Receptors Study
- S100 Proteins and Annexins
- Congenital heart defects research
- Ion channel regulation and function
- Cellular transport and secretion
- Biochemical Analysis and Sensing Techniques
- Neonatal Respiratory Health Research
- Fetal and Pediatric Neurological Disorders
- Muscle Physiology and Disorders
- RNA Research and Splicing
- RNA modifications and cancer
- Head and Neck Anomalies
- Prenatal Screening and Diagnostics
- Neonatal Health and Biochemistry
- Ubiquitin and proteasome pathways
- Parvovirus B19 Infection Studies
- Thyroid and Parathyroid Surgery
Chinese PLA General Hospital
2016-2025
National Clinical Research Center for Digestive Diseases
2020-2025
Chinese People's Liberation Army
2017-2021
Ministry of Education of the People's Republic of China
2021
National Natural Science Foundation of China
2019
China Postdoctoral Science Foundation
2019
Textron Systems (United Kingdom)
2019
People's Liberation Army No. 150 Hospital
2017
<h3>Background</h3> Auditory neuropathy spectrum disorder (ANSD) is a form of hearing loss in which auditory signal transmission from the inner ear to nerve and brain stem distorted, giving rise speech perception difficulties beyond that expected for observed degree loss. For many cases ANSD, underlying molecular pathology site lesion remain unclear. The X-linked condition, AUNX1, has been mapped Xq23-q27.3, although causative gene yet be identified. <h3>Methods</h3> We performed whole-exome...
Abstract Background Non-isolated auditory neuropathy (AN), or syndromic AN, is marked by AN along with additional systemic manifestations. The diagnostic process challenging due to its varied symptoms and overlap other syndromes. This study focuses on two mitochondrial function-related genes which result in non-isolated FDXR TWNK , providing a summary enrichment analysis of associated elucidate the genotype-phenotype correlation underlying mechanisms. Methods Seven independent Chinese Han...
To investigate the clinical and audiological features in auditory neuropathy (AN) patients with different image performance of cochlear nerve (CN) on MRI. AN were selected from Multicenter Study Clinical Diagnosis Intervention (2003-2023). Subjects divided into four groups by CN size MRI: bilateral normalization (BANcnn), deficiency (BANcnd), unilateral CND (UANcnd), (UANcnn) groups. analyzed, alongside differential analysis using Internal meatus (IAM) grading system. Totally 132 cases...
Auditory neuropathy spectrum disorder (ANSD) is one of the most common diseases leading to hearing and speech communication barriers in infants young children. The OTOF gene first identified for autosomal recessive non-syndromic ANSD, patients with mutations have shown marked improvement auditory functions from cochlear implantation, but true involvement Chinese ANSD still unknown which precludes effective management this disease. Here, we investigated contribution congenital China. In all,...
Auditory neuropathy (AN) is a unique type of language developmental disorder, with no precise rate genetic contribution that has been deciphered in large cohort. In retrospective cohort 311 patients AN, pathogenic and likely variants 23 genes were identified 98 (31.5% patients), 14 mutated two or more patients. Among subgroups the prevalence was 54.4% 56.2% trios families, while 22.9% cases proband-only; 45.7% 25.6% infant non-infant group; 33.7% 0% bilateral unilateral AN cases. Most OTOF...
A couple with a proband child of GJB2 (encoding the gap junction protein connexin 26)-associated hearing impairment and previous pregnancy miscarriage sought for reproductive solution to bear healthy child. Our study aimed develop customized preconception-to-neonate care trajectory fulfill this clinical demand by integrating preimplantation genetic diagnosis (PGD), noninvasive prenatal testing (NIPT), (NIPD) into strategy. Auditory was carried out identify disease causative mutations. The...
To report two DFNA5 pathogenic splice-site variations and a novel benign frameshift variation to further support the gain-of-function mechanism of related hearing impairment, targeted genes capture next generation sequencing were performed on selected members from Family 1007208, 1007081 sporadic case with sensorineural loss. Reverse transcriptase polymerase chain reaction was conducted proband 1007208 test how affects transcription in RNA level. A heterozygous c.991-3 C > found 1007208;...
Abstract Background Variants in TMC 1 (transmembrane channel‐like 1) can cause both autosomal dominant and recessive hearing loss human population. Mice with Tmc1 variants have been shown to be ideal animal models for gene therapy. In this article, we report four different Chinese families the follow‐up auditory phenotype of a previously reported family. Methods Four variants, as well described family variant orthologous Beethoven mouse, were recruited study. A comprehensive evaluation was...
To decipher the genotype-phenotype correlation of auditory neuropathy (AN) caused by AIFM1 variations, as well phenotype progression these patients, exploring potential molecular pathogenic mechanism AN. A total 36 families individuals with AN (50 cases) variations were recruited and identified Sanger sequencing or next-generation sequencing; participants included 30 patients from 16 reported 20 new cases. We found that AIFM1-positive cases accounted for 18.6% late-onset Of 50 variants, 45...
Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous genetic condition. PDZD7 has emerged as new etiology of ARNSHL. Biallelic mutations in the gene have been reported two German families, four Iranian and Pakistani family with The effect on ARNSHL other population yet to be elucidated. Two Chinese each which had affected siblings, were included this study. families underwent target region capture high-throughput sequencing analyze exonic, splice-site, intronic...
Background: The molecular genetic research showed the association between X-linked hearing loss and mutations in POU3F4. This aimed to identify a POU3F4 mutation nonsyndromic recessive family. Methods: A series of clinical evaluations including medical history, otologic examinations, family audiologic testing, high-resolution computed tomography scan were performed for each patient. Bidirectional sequencing was carried out all polymerase chain reaction products samples. Moreover, 834...
Conclusion: To our knowledge, this is the first report of PJVK gene mutation in a Chinese non-syndromic sensorineural hearing loss (NSHL) family. Our data indicate that contributes to impairment population, but it not major cause. Objective: investigate contribution mutations NSHL population. Methods: We screened for sample 65 autosomal recessive families without GJB2, SLC26A4, or mitochondrial 12S rRNA mutations. Seven pairs PCR primers were designed amplify all exons and their flanking...
Abstract To decipher the phenotype and genotype of a Chinese family with autosomal dominant non-syndromic hearing loss (ADNSHL) novel missense mutation in GJB2 gene (DFNA3), screening was performed on propositus from five-generation ADNSHL through polymerase chain reaction amplification Sanger sequencing. The candidate variation co-segregation were verified all ascertained members. Targeted genes capture next-generation sequencing (NGS) to explore additional genetic variations. We identified...
To report the phenotypic heterogeneity of GJB2 c.235delC homozygotes associated with post-lingual and/or milder hearing loss, and explore possible mechanism these unconditional phenotypes.Mutation screening was performed on all ascertained members from Family 1006983 three sporadic patients by polymerase chain reaction (PCR) amplification Sanger sequencing. Next generation sequencing (NGS) successively some affected normal controls to additional genetic codes. Reverse...
To analyze the clinical characteristics of patients with unilateral auditory neuropathy (UAN), and to provide guidance for future diagnosis research.Patients who were clinically diagnosed UAN from 2004 2019 included. Clinical characteristics, audiological features, imaging findings, genetic test results management effect summarized followed.A total 44 [mean age, 4.35 ± 4.39 years; 22 (50.00%) males females] enrolled analyses. Among 38 tested by pure-tone or behavioral audiometry, degree...
To investigate the association of serum bilirubin level with hearing outcomes in bilateral sudden sensorineural loss (BSSHL) patients.One hundred thirteen in-patient BSSHL patients were consecutively enrolled between July 2008 and December 2015 a tertiary center.Multivariable linear regression, generalized estimating equations (GEE), stratified analyses applied to examine outcome measures such as final threshold absolute relative gains BSSHL.After full adjustment for potential confounders,...
Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss the most frequent phenotypic feature. This study aimed at identifying causative mutation for a three-generation Chinese family with HDR analyzing auditory phenotypes in all familial cases.Three affected members underwent otologic examinations, biochemistry tests, other clinical evaluations....
Objective: The objective of this study is to analyze the genotype-phenotype correlation patients with auditory neuropathy (AN), which a clinical condition featuring normal cochlear responses and abnormal neural responses, ATP1A3 c.2452 G > A (p.E818K), has been generally recognized as genetic cause cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS) syndrome. Methods: Four diagnosed AN by evaluation otoacoustic emission brainstem were recruited analyzed...
Objective:To analyse the audiological characteristics of patients children with auditory neuropathy（AN） for gaining a better understanding prognosis AN. Methods:58 patients（108 ears） AN were enrolled, all whom had received further consultation within 10 years after first consultation. Behavioral audiometry test, tympanogram distortion product otoacoustic emission（DPOAE）, brainstem response（ABR）, cochlear microphonics（CM）, steady-state response（ASSR） performed on these patients....
Abstract Objective To explore the audiological characteristics of infant auditory neuropathy (AN) patients with cochlear microphonic (CM) recorded but absent otoacoustic emission (OAE), clinically reducing rate missed diagnosis AN. Methods We retrospectively analyzed AN in our medical center between 2003 and 2020. A total 18 were OAE group, CM present distortion product (DPOAE) both ears. 44 DPOAE Results (1) The found age group was 0.9 (0.02) years old, which younger than 1.11 (1.63) old (...