A5013862085- Neurobiology and Insect Physiology Research
- Genomics and Rare Diseases
- Aquaculture Nutrition and Growth
- Cell Adhesion Molecules Research
- Protein Tyrosine Phosphatases
- Neonatal Respiratory Health Research
- Genetic Neurodegenerative Diseases
- Genetic and Kidney Cyst Diseases
- Microtubule and mitosis dynamics
- Galectins and Cancer Biology
- Pancreatic function and diabetes
- Diabetes Management and Research
- TGF-β signaling in diseases
- Genetic Syndromes and Imprinting
- Pancreatic and Hepatic Oncology Research
- Cephalopods and Marine Biology
- Physiological and biochemical adaptations
- Marine Invertebrate Physiology and Ecology
- Congenital Diaphragmatic Hernia Studies
- Surgical Sutures and Adhesives
- IgG4-Related and Inflammatory Diseases
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Genomic variations and chromosomal abnormalities
- Dermatological and Skeletal Disorders
- Cellular transport and secretion
Shanghai Children's Medical Center
2021-2025
Shanghai Jiao Tong University
2021-2025
Xiamen University
2013-2017
Abstract Background ABCC8 variants can cause hyperinsulinemia by activating or deactivating gene expression. This study used targeted exon sequencing to investigate genetic of and the associated phenotypic features in Chinese patients with hyperinsulinemic hypoglycemia (HH). Methods We enrolled eight children HH analyzed their clinical characteristics, laboratory results, variations. Results The age at presentation among ranged from neonates 0.6 years old, diagnosis 1 month 5 years, an...
Alström syndrome (ALMS) is a rare inherited metabolic disease and ciliopathy. Large cohorts of ALMS are lacking around the world. Detailed genetic phenotypic data were obtained from all affected individuals. Olfactory function was evaluated by Chinese Smell Identification Test facial pattern analyzed with Face2gene. Fifty patients included in this study, aged 0.3 to 21.7 years old. Sixty-one ALMS1 variants 50 47 different families confirmed, including 59 truncating two exon deletions....
The ARCN1 gene encodes the delta subunit of coatomer protein complex I (COPI), which is essential for mediating transport from Golgi to endoplasmic reticulum. Variants in are associated with clinical features such as microcephaly, microretrognathia, intrauterine growth restriction, short rhizomelic stature, and developmental delays. We present a case patient exhibiting preterm birth, micrognathia, central precocious puberty. Whole-exome sequencing identified novel splice-site variant,...
Abstract Background Cardio-facio-cutaneous (CFC) syndrome is a RASopathy subtype that presents with unique craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. This study describes the phenotypic spectrum of CFC in China its association gene variants. Results Twenty Chinese patients, aged 0.6–9.5 years old, were included this their clinical was compared 186 patients from non-Chinese ethnicities. All 20 carried de...
Abstract Background Mosaic variegated aneuploidy (MVA) syndrome is a rare, autosomal recessive genetic disease. Here, we report an ultra‐rare case of MVA associated with CEP57 variant. Methods We retrospectively analyzed the clinical data 9‐year‐old female patient and surveyed her family members. Whole‐exome sequencing karyotype analysis were performed; suspected mutations verified using Sanger sequencing. Results The presented intrauterine growth restriction, short stature, microcephaly,...
Abstract Background Type II collagenopathies are a spectrum of diseases and skeletal dysplasia is one the prominent features collagenopathies. Molecular defects COL2A1 gene cause type that mainly an autosomal dominant disease, whereas some rare cases with recessive inheritance mode have also been identified. Case presentation The patient was 5-year-old male short neck, flat face, epiphyseal dysplasia, irregular vertebral endplates, osteochondritis. Sequencing result indicated NM_001844.4:...
To explore the clinical characteristics and genetic basis of a child with Teebi hypertelorism syndrome 1 (TBHS1).A TBHS1 who was admitted to Children's Medical Center Affiliated Shanghai Jiao Tong University School Medicine on July 13, 2021 selected as study subject. Clinical data collected. Peripheral blood samples his parents were collected subjected whole exome sequencing (WES). Candidate variant verified by Sanger bioinformatic analysis.The child, 13-year-old male, had manifested delayed...