A5020430191- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Epigenetics and DNA Methylation
- Congenital Anomalies and Fetal Surgery
- Mitochondrial Function and Pathology
- Connective tissue disorders research
- RNA modifications and cancer
- RNA regulation and disease
- Congenital limb and hand anomalies
- Urological Disorders and Treatments
- Genetic Neurodegenerative Diseases
- Cardiomyopathy and Myosin Studies
- Genetic Syndromes and Imprinting
- Microtubule and mitosis dynamics
- Congenital gastrointestinal and neural anomalies
- Ion channel regulation and function
- RNA Research and Splicing
- Congenital Ear and Nasal Anomalies
- Congenital heart defects research
- RNA and protein synthesis mechanisms
- Craniofacial Disorders and Treatments
- Protease and Inhibitor Mechanisms
- Fetal and Pediatric Neurological Disorders
Dongguan People’s Hospital
2018-2024
Southern Medical University
2022
Kingmed Diagnostics
2015-2018
Guangzhou Medical University
2016
CCCTC‐binding factor (CTCF) is an important regulator for global genomic organization and gene expression. CTCF had been implicated in a novel disorder characterized by intellectual disability, feeding difficulty, developmental delay microcephaly. So far, four patients have reported with de novo mutations. We three additional Chinese variants . The new evidence helped to establish the clinical validity between emerging disorder. described consistent phenotypes shared all revealed features...
Members of the neurexin gene family, 1 (NRXN1), 2 (NRXN2), and 3 (NRXN3) encode important components synaptic function implicated in autism other neurodevelopmental/neuropsychiatric disorders. Loss variants have been reported predominantly NRXN1, with fewer such detected NRXN2 NRXN3. Evidence for segregating NRNX3 has particularly lacking. Here, we report identification by chromosomal microarray analysis a rare exonic deletion affecting NRXN3 alpha isoform three-generation Chinese family....
Marfan syndrome (MFS MIM#154700), due to pathogenic variants in the FBN1 gene, is an autosomal dominant connective tissue disorder, typically involving skeletal, cardiovascular and ocular systems. Currently, over 3000 MFS patients were reported, approximately 1800 identified. However, molecular diagnosis still remains challenging for 8%–10% of with clinical features suggestive MFS. In this study, we reported a 2-month-old Chinese female patient whose compatible Whole-exome sequencing (WES)...
Mowat-Wilson syndrome (MWS) is a genetic condition characterized by distinctive facial features, moderate to severe intellectual disability, developmental delay and multiple congenital anomalies. MWS caused heterozygous mutations or deletions of the ZEB2 gene located on chromosome 2q22.3. At present, over 190 cases with involving have been reported, but triplication duplication reciprocal region has never reported.Here we report 2-year-2-month-old boy carrying de novo 2.9 Mb complex copy...
Floating-Harbor syndrome (FHS) is a rare syndromic short stature disorder caused by truncating variants in SRCAP. Few Chinese FHS patients had been reported so far and limited knowledge regarding the benefit of growth hormone treatment existed. We ascertained 12 with molecularly confirmed diagnosis whole exome sequencing. performed comprehensive clinical evaluation for all assessed responsiveness subset patients. Five distinct pathogenic/likely pathogenic were identified independent...
Abstract Background Pathogenic KCNA1 variants have been linked to episodic ataxia type 1 (EA1), a rare neurological syndrome characterized by continuous myokymia and attacks of generalized that can be triggered fever, abrupt movements, emotional stress, fatigue. Currently, over 40 identified in individuals with EA1. Methods A male patient displayed partial seizures addition EA1 symptoms, often fever. sibling presented typical seizures, learning difficulties. In addition, the older brother...
Abstract Background Biallelic pathogenic variants in the KCNJ16 gene result hypokalemic tubulopathy and deafness (HKTD) (MIM #619406), which is a rare autosomal recessive disease characterized by with renal salt wasting, disturbed acid–base homeostasis, sensorineural deafness. Currently, nine individuals HKTD have been reported, seven revealed. Methods A 5‐year‐6‐month‐old Chinese female patient displayed metabolic acidosis, renin‐angiotensin‐aldosterone system (RAAS) activation, arrhythmia,...
Abstract Background Pathogenic SLC6A1 variants have been reported in patients with myoclonic-atonic epilepsy (MAE). NOTCH1 , encoding a member of the Notch family proteins, is known to be associated aortic valve disease. The PRIMPOL variant has only identified Chinese high myopia. Exome sequencing analysis now allows simultaneous detection multiple genetic etiologies for complicated clinical features. However, presence three Mendelian disorders one patient supported by their respective...
To present the prenatal findings and molecular cytogenetic analyses of a de novo interstitial deletion 1q23.3 encompassing PBX1 gene. A 32-year-old woman (gravida 1, para 0) underwent amniocentesis at 26 weeks' gestation because constant small fetal kidneys on ultrasound. Chromosome microarray analysis (CMA) detected 1.871 Mb 1q23.3. The encompassed 2 genes LMX1A. haploinsufficiency had been reported to lead syndromic congenital anomalies kidney urinary tract (CAKUT) in humans. Furthermore,...
Abstract Background Biallelic pathogenic variants in PIP5K1C (MIM #606,102) lead to lethal congenital contractural syndrome 3 (LCCS3, MIM #611,369), a rare autosomal recessive genetic disorder characterized by small gestational age, severe multiple joint contractures and muscle atrophy, early death due respiratory failure. Currently, 5 individuals with LCCS3 were reported identified. Here, we the two fetuses Chinese pedigree who displayed other anomalies. Methods Trio-based whole-exome...
Interstitial duplications distal to 15q13 are very rare.Here, we reported a 14-year-old boy with severe short stature, delayed bone age, hypogonadism, global developmental delay and intellectual disability. His had distinctive facial features including macrocephaly, broad forehead, deep-set widely spaced eyes, nose bridge, shallow philtrum thick lips. A de novo 6.4 Mb interstitial duplication of 15q15.3q21.2 was detected by chromosomal microarray analysis. We compared our patient's clinical...
Achondroplasia is a well-defined and common bone dysplasia. Genotype- phenotype-level correlations have been found between the clinical symptoms of achondroplasia achondroplasia-specific FGFR3 mutations. A 2-year-old boy with features consistent Silver-Russell syndrome-like was to carry mutation in fibroblast growth factor receptor-3 (FGFR3) gene at c.1138G > (p.Gly380Arg) de novo 574 kb duplication chromosome 7p12.1 that involved entire growth-factor receptor bound protein 10 (GRB10) gene....
Abstract Background Xp11.22 duplications have been reported to contribute nonsyndromic intellectual disability (ID). The HUWE1 gene has identified in all male duplication patients and is associated with ID. Currently, few cases the Chinese population, limited knowledge regarding role of other genes this interval. Case presentation We investigated four unrelated patients, performed a comprehensive clinical evaluation for discussed All presented similar features, including ID, speech...
Homozygous or compound heterozygous variants in the KLHL40 gene cause nemaline myopathy 8 (NEM8), a severe autosomal recessive muscle disorder characterized by prenatal polyhydramnios, fetal akinesia hypokinesia, joint contractures, fractures, respiratory failure and dysphagia. Currently, 46 individuals with NEM8 have been described literature, 30 identified.Here, we reported five from four unrelated Chinese families who presented common features of infrequent clinical characteristics....
Paternal uniparental disomy 14 (patUPD14) is a distinct, clinically recognizable syndrome. Using clinical SNP microarray, we identified patUPD14 in boy with normal karyotype presenting cardiomyopathy and facial anomalies, specific configuration of the thoracic ribs (‘coat hanger sign'), hypospadias. Analyses polymorphic microsatellites confirmed diagnosis patUPD14. We discuss functions genes included rearrangement their involvement pathogenesis these disorders, especially <i>ESR2...
Microdeletions at 19q13.2 are very rare. Only two cases have been previously described. Here we report a 2-year-2-month old boy with Diamond-Blackfan anemia, global developmental delay, cognitive impairments, distinctive facial features, behavior problems, skeletal and genital dysplasia.A de novo 1.6 Mb microdeletion 19q13.2q13.31 was detected by chromosomal microarray analysis. Haploinsufficiency of the RPS19 gene is known to cause other features in this patient likely due deletion...
Objective: Biallelic pathogenic variants in TOE1 cause pontocerebellar hypoplasia type 7 (PCH7), a rare neurological condition characterized by psychomotor retardation, spastic paraplegia, seizures, gonadal abnormalities and brain anomalies. Currently, only 14 postnatally diagnosed PCH7 patients have been described. However, the prenatal clinical profile of has not yet reported.Method: Whole-exome sequencing (WES) was performed to screen for causal variants.Results: We report pedigree...
Abstract Biallelic pathogenic variants in RNASEH2C cause Aicardi‐Goutières syndrome 3 (AGS3, MIM #610329), a rare early‐onset encephalopathy characterized by intermittent unexplained fever, chilblains, irritability, progressive microcephaly, dystonia, spasticity, severe psychomotor retardation and abnormal brain imaging. Currently, approximately 50 individuals with AGS3 19 have been revealed. Here, we reported the novel clinical manifestations genotypic information of three unrelated Chinese...
Abstract Biallelic pathogenic variants in TARS2 lead to combined oxidative phosphorylation deficiency, subtype 21 (COXPD21, MIM #615918), which is a rare mitochondrial encephalomyopathy (ME) characterized by early-onset severe axial hypotonia, limb hypertonia, psychomotor developmental delay, epilepsy and brain anomalies. To date, approximately 28 individuals with COXPD21 have been identified. In this study, we reported additional four from three unrelated Chinese families caused , described...