A5049783924- Congenital heart defects research
- Congenital limb and hand anomalies
- Congenital Heart Disease Studies
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Thyroid and Parathyroid Surgery
- Connective tissue disorders research
- Prenatal Screening and Diagnostics
- Hearing, Cochlea, Tinnitus, Genetics
- Immune Response and Inflammation
- Healthcare Policy and Management
- Cardiomyopathy and Myosin Studies
- Hedgehog Signaling Pathway Studies
- interferon and immune responses
- Primary Care and Health Outcomes
- Connexins and lens biology
- Cancer-related molecular mechanisms research
- RNA Research and Splicing
- Genetic Neurodegenerative Diseases
- Intestinal Malrotation and Obstruction Disorders
- Healthcare Systems and Technology
- Craniofacial Disorders and Treatments
- Muscle Physiology and Disorders
- Vestibular and auditory disorders
- Congenital Anomalies and Fetal Surgery
University of Hong Kong
2021-2025
BGI Group (China)
2016-2019
Guangzhou Center for Disease Control and Prevention
2019
China National GeneBank
2018
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....
Tetralogy of Fallot (TOF) is the most common cyanotic heart defect in neonates. While there compelling evidence genetic contribution to etiology TOF, noncoding variants development remains unexplored. Potentially damaging de novo (NC DNVs) were detected from 141 Chinese nonsyndromic TOF trios (CHN-TOF) and compared those Pediatric Cardiac Genomics Consortium (PCGC). Bioinformatic analyses on previously coding DNVs performed identify developmental pathways affected TOF. but not PCGC patients...
Abstract Muscular dystrophy‐dystroglycanopathy ( MDDG ) is a genetically and clinically heterogeneous group of muscular disorders, characterized by congenital dystrophy or later‐onset limb‐girdle accompanied brain ocular abnormalities, resulting from aberrant alpha‐dystroglycan glycosylation. Exome sequencing Sanger were performed on six‐generation consanguineous Han Chinese family, members which had autosomal recessive . Compound heterozygous mutations, c.1338+1G>A (p.H415Kfs*3)...
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;...
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...
Syndactyly is one of the most common hereditary limb malformations, and characterized by fusion specific fingers and/or toes. type I‑c associated with bilateral cutaneous or bony webbing third fourth occasionally to fifth fingers, normal feet. The aim present study was identify genetic basis syndactyly in four generations a Chinese Han family exome sequencing. Exome sequencing conducted proband family, followed direct other members same ancestry, as well 100 ethnically‑matched, unrelated...
Tetralogy of Fallot (TOF) is the most common cyanotic heart defect, yet underlying genetic mechanisms remain poorly understood. Here, we performed whole-genome sequencing analysis on 146 nonsyndromic TOF parent-offspring trios Chinese ethnicity. Comparison de novo variants and recessive genotypes this data set with from a European cohort identified both overlapping potentially novel gene loci revealed differential functional enrichment between cohorts. To assess impact these mutations early...
Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue. CCA characterized by arachnodactyly, dolichostenomelia, pectus deformities, kyphoscoliosis, congenital contractures and a crumpled appearance the helix ear. The aim this study to identify genetic cause 4-generation Chinese family Tujia ethnicity with exome sequencing. clinical features patients in are consistent CCA. A novel missense mutation,...
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 To investigate the conditional difference in outpatients between urban and rural residents Guangdong Province. Methods Multi-stage cluster random sampling method was used to monitor data of residents' health service utilization Yingde at Liwan District, Guangzhou. The household demographic characteristics outpatient were investigated by survey. And χ2 test t analyze compare use these two places. Results The numbers visited within one month 68.8% 75.3%, respectively. In...