A5075730354- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Genetic Neurodegenerative Diseases
- Biochemical and Molecular Research
- RNA modifications and cancer
- Genetic Syndromes and Imprinting
- Neurogenetic and Muscular Disorders Research
- Epigenetics and DNA Methylation
- Ubiquitin and proteasome pathways
- Neonatal Health and Biochemistry
- Mitochondrial Function and Pathology
- HIV/AIDS drug development and treatment
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
Wenzhou Medical University
2022-2024
First Affiliated Hospital of Wenzhou Medical University
2022-2024
Abstract Background Succinate‐CoA ligase/synthetase (SCS) deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Variants in SUCLG1 , the nuclear gene encoding alpha subunit of SCS enzyme playing a pivotal role maintaining mtDNA integrity stability, are associated syndrome 9 (MTDPS9). Methods In this study, we reported an infant clinical features MTDPS9 from China. Whole exome sequencing (WES) was used to identify genetic cause....
Dubin-Johnson syndrome (DJS), a rare autosomal recessive liver condition, is caused by biallelic loss-of-function mutations of the ABCC2 gene. This study aimed to investigate genetic variations in drug efflux transporter (MRP2) gene patients with DJS and characterise expression mechanism variant. Trio whole exome sequencing was performed family identify causes. Bioinformatics analysis assess pathogenicity. In vitro experiments, site-directed mutagenesis used introduce variants constructs...
Abstract Brachydactyly A1 (BDA1) is a rare disorder characterized by the disproportionate shortening of fingers and/or toes with or without symphalangism. Mutations in Indian hedgehog signaling molecule ( IHH ), which impair effect functional protein derived from its precursor IHH, are commonly identified patients BDA1 acrocapitofemoral dysplasia (ACFD). The ultrasound phenotype fetuses mutations has rarely been described. To better understand consequences mutation, we analyzed...
Abstract Background CWF19L1 i s responsible for spinocerebellar ataxia, autosomal recessive 17, which presents with cerebellar and atrophy. Here, we report novel compound heterozygous variants of in a Chinese family progressive ataxia mental retardation unknown etiology by analyzing clinical characteristics genetic variations. Methods Clinical profiles genomic DNA extracts members were collected. Whole‐exome Sanger sequencing performed to detect associated variants. Pathogenicity prediction...
Terminal or interstitial deletion of chromosome 2q is rarely reported but clinically significant, which can result in developmental malformations and psychomotor retardation humans. In the present study, we analyzed this to comprehensively clarify relationship between phenotype microdeletion region.We collected clinical records fetus summarized patient symptoms. Subsequently, genomic DNA was extracted from fetal tissue peripheral blood parents. addition, whole-exome sequencing (WES) copy...
To explore the genetic basis for a Chinese pedigree with 6q26q27 microduplication and 15q26.3 microdeletion.A fetus microdeletion diagnosed at First Affiliated Hospital of Wenzhou Medical University in January 2021 members its were selected as study subject. Clinical data was collected. The parents analyzed by G-banding karyotyping chromosomal microarray analysis (CMA), maternal grandparents also subjected to karyotype analysis.Prenatal ultrasound had indicated intrauterine growth...