A5011569006- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Genetic factors in colorectal cancer
- Genetic Syndromes and Imprinting
- Tracheal and airway disorders
- Skin and Cellular Biology Research
- Cancer Genomics and Diagnostics
- Pregnancy and preeclampsia studies
- Connective tissue disorders research
- Cardiomyopathy and Myosin Studies
- Cystic Fibrosis Research Advances
- Antifungal resistance and susceptibility
- Hemoglobinopathies and Related Disorders
- RNA and protein synthesis mechanisms
- Genetic and Kidney Cyst Diseases
- Coenzyme Q10 studies and effects
- Aortic Disease and Treatment Approaches
- Pharmacogenetics and Drug Metabolism
- Dermatological and Skeletal Disorders
- Advanced battery technologies research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Vitamin K Research Studies
- Cardiac pacing and defibrillation studies
- Chromosomal and Genetic Variations
University of Hong Kong
2020-2024
Chinese University of Hong Kong
2020-2024
Queen Mary Hospital
2023
Prenetics (China)
2020
Rapid whole-exome sequencing (rWES) offers the potential for early diagnosis-predicated precision medicine. Previous evidence focused predominantly on infants from intensive care unit (ICU). This study sought to examine diagnostic and clinical utility, economic impact management of rWES in patients beyond infancy ICU setting.rWES was performed a prospective cohort with suspected monogenic disorder referred territory-wide paediatric ICUs non-ICUs Hong Kong urging rapid genetic diagnosis. All...
Mosaicism refers to the presence of two or more populations genetically distinct cells within an individual, all which originate from a single zygote. Previous literature estimated percentage parental mosaicism ranged 0.33 25.9%. In this study, parents whose children had previously been diagnosed with developmental disorders apparent de novo variant were recruited. Peripheral blood, buccal and semen samples collected these if available for detection potential using droplet digital PCR,...
Preemptive pharmacogenetic testing has the potential to improve drug dosing by providing point-of-care patient genotype information. Nonetheless, its implementation in Chinese population is limited lack of population-wide data. In this study, secondary analysis exome sequencing data was conducted study pharmacogenomics 1116 Hong Kong Chinese. We aimed identify spectrum actionable variants and rare, predicted deleterious that are potentially Chinese, estimate proportion dispensed drugs may...
Traditional carrier screening has been utilized for the detection of carriers genetic disorders. Since a comprehensive assessment frequencies recessive conditions in Southern Chinese population is not yet available, we performed secondary analysis on spectrum and status 315 genes causing autosomal disorders 1543 individuals with next-generation sequencing data, 1116 exome 427 genome data. Our data revealed that 1 2 people (47.8% population) was one or more conditions, 12 (8.30% treatable...
RNA sequencing (RNA-seq) is emerging in genetic diagnoses as it provides functional support for the interpretation of variants uncertain significance. However, use amniotic fluid (AF) cells RNA-seq has not yet been explored. Here, we examined expression clinically relevant genes AF (n = 48) compared with whole blood and fibroblasts. The number well-expressed was comparable to that fibroblasts much higher than across different disease categories. We found feasible beneficial prenatal...
Abstract Background Understanding the genetic basis of cancer risk is a major international endeavor. The emergence next-generation sequencing (NGS) in late 2000’s has further accelerated discovery many susceptibility genes. use targeted NGS-based multigene testing panels to provide comprehensive analysis susceptible genes proven be viable option, with accurate and robust detection wide range clinically relevant variants being crucial. Methods We have developed validated test for hereditary...
Abstract We report this rare case of cerebral phaeohyphomycosis in a previously healthy Chinese boy, who was found to have caspase recruitment domain family member 9 (CARD9) deficiency. Initial radiological features suggested neoplastic lesion, while histopathological examination supplemented by internal transcribed sequencing (ITS) tissue confirmed the diagnosis phaeohyphomycosis. He treated with intravenous (IV) liposomal amphotericin B and voriconazole, guided plasma cerebrospinal fluid...
Abstract Marfan Syndrome (MFS) is an autosomal dominant connective tissue disorder with a wide range of severities. Ninety‐five percent MFS probands have mutation in the fibrillin‐1 gene ( FBN1 ); however, there are high number unique mutations complicating attempts at establishing any phenotype–genotype correlations for this disease (Tiecke et al., European Journal Human Genetics, 2001, 9, 13–21). One few extant genotype–phenotype exon 24–32 which been associated severe pediatric...
Bronchiectasis is the abnormal dilation of airway which may be caused by various etiologies in children. Beyond more recognized cause bacterial and viral infections primary immunodeficiencies, other genetic conditions such as cystic fibrosis ciliary dyskinesia (PCD) can also contribute to disease. Currently, there still debate on whether genome sequencing (GS) or exome reanalysis (rES) would beneficial if initial targeted testing results returned negative. This study aims provide a...
Fetal structural congenital abnormalities (SCAs) complicate 2-3% of all pregnancies. Whole-exome sequencing (WES) has been increasingly adopted prenatally when karyotyping and chromosomal microarray do not yield a diagnosis. This is retrospective cohort study 104 fetuses with SCAs identified on antenatal ultrasound in Hong Kong, where whole exome performed. Molecular diagnosis was obtained 25 the (24%). The highest diagnostic rate found multiple (29.2%), particularly those involvement...
A newborn baby born at 34 weeks and 5 days gestation was admitted for prematurity, dysmorphic features congenital heart defects. Antenatal scan 21 showed a large-for-gestational-age foetus with large abdominal circumference liver, ventricular septal defect, right prominent renal pelvis echogenic bowel. genetic tests overgrowth syndromes were negative. The mother had early onset pre-eclampsia. After birth, an syndrome still suspected despite the having normal birth parameters. Raw data of...
Precision medicine in paediatric cardiac channelopathy and cardiomyopathy has a rapid advancement over the past years. Compared to conventional gene panel exome-based testing, whole genome sequencing (WGS) offers additional coverage at promoter, intronic regions mitochondrial genome. However, data on use of WGS evaluate genetic cause these cardiovascular conditions children adolescents are limited.
Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder characterized by progressive involving the carpal and tarsal bones, often associated with nephropathy. It caused heterozygous mutation in MAF bZIP transcription factor B (MAFB) gene. Heterogeneous clinical manifestation wide spectrum of disease severity have been observed patients MCTO. Here, we report case male patient who presented kidney failure childhood disabling deformity. He was diagnosed MCTO at...
Kindler Syndrome (KS) is one of the rarest subtypes epidermolysis bullosa (EB). It characterised by congenital blistering, skin fragility, photosensitivity, and poikilodermatous changes. an autosomal recessive condition with established disease-causing mechanism having biallelic pathogenic variants in FERMT1 gene. Multiple have been reported worldwide since discovery 1954. This case report describes two patients Chinese descent molecularly confirmed KS, diagnosed infancy while other...
Case reportThe patient was the only child of a nonconsanguineous Chinese couple and born at full term by normal vaginal delivery with birth weight 2.85 kg.She had good past health except for admission reflex-anoxic attack age 7 months.Physical examination that time unremarkable growth parameters blood pressure her age.Investigations showed anion gap metabolic acidosis hyperkalaemia potassium 7.1 mmol/L but serum sodium renal function.In view biochemical findings, provisional diagnosis type...
Patient 1In January 1998, a 14-month-old girl presented with fever and dyspnoea.Plain chest radiograph showed opacification of the right hemithorax that corresponded to multicystic mass on computed tomography.Thoracotomy was performed 11-cm × 9.5-cm 5-cm mixed cystic-solid excised.Together histological findings, type II pleuropulmonary blastoma (PPB) diagnosed.The patient treated adjuvant chemotherapy according Intergroup Rhabdomyosarcoma Study-IV regimen but developed ifosfamideinduced...