A5066790709- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Fetal and Pediatric Neurological Disorders
- Mitochondrial Function and Pathology
- COVID-19 Clinical Research Studies
- SARS-CoV-2 and COVID-19 Research
- Genomics and Rare Diseases
- Hearing, Cochlea, Tinnitus, Genetics
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Tumors and Oncological Cases
- Genetic Syndromes and Imprinting
- RNA Interference and Gene Delivery
- Genetic Neurodegenerative Diseases
- Muscle Physiology and Disorders
- SARS-CoV-2 detection and testing
- Vestibular and auditory disorders
- Long-Term Effects of COVID-19
- Receptor Mechanisms and Signaling
- Advanced biosensing and bioanalysis techniques
- RNA regulation and disease
- Cardiomyopathy and Myosin Studies
- Chromatin Remodeling and Cancer
Wenzhou Central Hospital
2015-2025
Nanchang University
2019-2023
Wenzhou Medical University
2014-2022
University of South China
2014
Although spinal muscular atrophy (SMA), hereditary hearing loss (HL), and thalassemia are common monogenic genetic diseases, the carrier frequencies variant spectrums of these diseases show regional differences, even within China. Their in Southern Zhejiang, China unclear. Saliva was collected for screening amniotic fluid, villi, peripheral blood were prenatal diagnosis. Real-time quantitative polymerase chain reaction (PCR) multiplex ligation-dependent probe amplification (MLPA) used to...
ABSTRACT OBJECTIVE To investigate the dynamics of viral RNA, IgM, and IgG their relationships in patients with SARS-CoV-2 pneumonia over an 8-week period. DESIGN Retrospective, observational case series. SETTING Wenzhou Sixth People’s Hospital PARTICIPANTS Thirty-three laboratory confirmed admitted to hospital. Data were collected from January 27 April 10, 2020. MAIN OUTCOME MEASURES Throat swabs, sputum, stool, blood samples collected, load was measured by reverse transcription PCR...
Abstract Introduction Facioscapulohumeral muscular dystrophy 1 (FSHD1) is a relatively common autosomal dominant adult with variable disease penetrance. The caused by shortening of D4Z4 repeat array located near the telomere chromosome 4 at 4q35. This causes activation dormant gene DUX4 , permitting aberrant expression which toxic to muscles. Molecular diagnosis FSHD1 Southern blot hybridization or FISH combing difficult and time consuming, requiring specialist laboratories. As an...
Little is known regarding why a subset of COVID-19 patients exhibited prolonged positivity SARS-CoV-2 infection. Here, we found that with long viral RNA course (LC) high-level IgG antibodies and higher regulatory T (Treg) cell counts compared to those short (SC) in terms load. Longitudinal proteomics metabolomics analyses the patient sera uncovered shedding was associated inhibition liver X receptor/retinoid receptor (LXR/RXR) pathway, substantial suppression diverse metabolites, activation...
Genetic skeletal disorders (GSD) involving the system arises through disturbances in complex processes of development, growth and homeostasis remain a diagnostic challenge because their clinical heterogeneity genetic variety. Over past decades, tremendous effort platforms have been made to explore heterogeneity, massive new genes mutations identified different GSD, but information supplied by literature is still limited it hard meet further needs scientists clinicians. In this study,...
Phospholipid phosphatase related 4 (PLPPR4), a neuron-specific membrane protein located at the postsynaptic density of glutamatergic synapses, is putative regulator neuronal plasticity. However, PLPPR4 dysfunction has not been linked to genetic disorders. In this study, we report three unrelated patients with intellectual disability (ID) or autism spectrum disorder (ASD) who harbour de novo heterozygous copy number loss in 1p21.2p21.3, nonsense mutation (NM_014839, c.4C > T, p.Gln2*) and...
Abstract Background Hearing loss (HL) is a common sensory disorder in humans characterized by extreme clinical and genetic heterogeneity. In recent years, next‐generation sequencing (NGS) technologies have proven to be highly effective powerful tools for population studies of HL. Here, we analyzed molecular data from 21 Chinese deaf families who did not hotspot mutations the deafness genes GJB2 , SLC26A4 GJB3 MT ‐ RNR1 . Method Targeted (TGS) 127 known was performed probands 12 families,...
Abstract Background With the application of chromosome microarray, next-generation sequencing and other highly sensitive genetic techniques in disease diagnosis, detection mosaicism has become increasingly prevalent. This study involved a retrospective analysis SNP array testing on 4512 prenatal diagnosis samples, wherein characterization was explored insights were gained into underlying mechanisms thereof. Results Using array, total 44 cases identified among diagnostic cases; resulting rate...
<b><i>Objectives:</i></b> To evaluate the usefulness of single-nucleotide polymorphism (SNP) array for prenatal genetic diagnosis congenital heart defect (CHD), we used this approach to detect clinically significant copy number variants (CNVs) in fetuses with CHDs. <b><i>Methods:</i></b> A HumanCytoSNP-12 was genomic samples obtained from 39 that exhibited cardiovascular abnormalities on ultrasound and had a normal karyotype. The relationship...
Terminal deletion of 6q27 produces a rare syndrome associated with unexplained mental retardation, hypotonia, epilepsy, and multiple malformations. Structural brain malformations are consistently observed, including agenesis the corpus callosum, hydrocephalus, periventricular nodular heterotopia, polymicrogyria, cerebellar Here we report fetal risk assessment 27-year-old woman hypotonia dysmorphic features at 17 weeks pregnancy.Cytogenetic analyses revealed an addition chromosome 6qter in...
Pregnant women with high-risk indications are highly suspected of fetal chromosomal aberrations. To determine whether Multiplex Ligation-dependent Probe Amplification (MLPA) using subtelomeric probe mixes (P036-E2 and P070-B2) is a reliable method for rapid detection The MLPA were used to evaluate 50 blood samples from healthy individuals. 168 amniocytes 182 umbilical cord fetuses analyzed the same sets. Karyotyping was also performed in all cases pregnancies, single nucleotide polymorphism...
Abstract Background QRFPR is a recently identified member of the G protein‐coupled receptor and an orphan for 26Rfa, which plays important role in regulation many physiological functions. Methods Here, we employed whole exome sequencing (WES) to examine patients with intellectual disability (ID) difficulty feeding. We performed SIFT PolyPhen2 predictions variants. The structure model was built from scratch by I‐TASSER. results derived number cell‐based functional assays, including shRNA...
To explore the genetic etiology of two patients with Perrault syndrome (PRLTS) in a family.Whole exome sequencing (WES) was carried out to screen potential variants within genomic DNA extracted from proband. Suspected were validated by clinical data and results Sanger sequencing.WES has identified heterozygous TWNK gene, namely c.1172G>A (p.Arg391His) c.1844G>C (p.Gly615Ala). confirmed that (p.Arg391His), known pathogenic variant, derived her father, while (p.Gly615Ala), novel mother. Her...
The potential correlations between chromosomal abnormalities and craniofacial malformations (CFMs) remain a challenge in prenatal diagnosis. This study aimed to evaluate 118 fetuses with CFMs by applying microarray analysis (CMA) G-banded chromosome analysis.Of the cases this study, 39.8% were isolated (47/118) whereas 60.2% non-isolated (71/118). detection rate of CFM was significantly higher than that (26/71 vs. 7/47, p = 0.01). Compared 16 (16/104; 15.4%) pathogenic detected karyotype...
To carry out mutation analysis for a Chinese family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).Whole exome sequencing (WES) was used to screen potential mutations within genomic DNA extracted from the proband. Suspected validated by combining clinical data and results Sanger sequencing.A homozygous deletional c.3665_3675delGTGCTGTCTTA (p.S1222fs) found in proband, which her parents were both heterozygous carriers.WES is capable detecting underlying this...
Abstract Little is known regarding why a subset of COVID-19 patients exhibited prolonged positivity SARS-CoV-2 infection. Here, we studied the sera proteomic dynamics in 37 over nine weeks, quantifying 2700 proteins with high quality. Remarkably, found that during first three weeks since disease onset, while clinical symptoms and outcome were indistinguishable, course displayed characteristic immunological responses including enhanced Natural Killer cell-mediated innate immunity regulatory T...
To carry out mutation analysis and prenatal diagnosis for 12 families affected with hearing loss enlarged vestibular aqueduct from southern Zhejiang province.Clinical data peripheral venous blood samples of 38 members the were obtained. Mutations 4 genes, namely SLC26A4, GJB2, c.538C to T c.547G A GJB3, m.1555A G m.1494C 12S rRNA, detected by PCR Sanger sequencing. Maternal contamination was excluded application STR detection during diagnosis.Among probands families, 11 found be compound...
Oculocutaneous albinism (OCA) is a group of heterogeneous genetic disorders characterized by abnormal melanin synthesis in the hair, skin, and eyes. OCA exhibits obvious phenotypic heterogeneity. Molecular diagnosis causal genes can be help classification subtypes study pathogenesis． METHODS: In this study, Sanger sequencing whole exome were used to genetically diagnose 20 nonconsanguineous Chinese patients. addition, prenatal was provided six families.Variants TYR, OCA2, HPS1 detected 85%,...