ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child featuring global developmental delay.@*METHODS@#DNA was extracted from peripheral blood sample taken from the patient and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members.@*RESULTS@#A heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene was detected in the proband, which was a verified to be de novo in origin.@*CONCLUSION@#The heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene probably underlay the disease in this child.
Subject(s)
Child , Humans , Arthrogryposis , Family , GTP-Binding Protein beta Subunits , Heterozygote , Intellectual Disability/genetics , Exome SequencingABSTRACT
Variation of maternal gut microbiota may increase the risk of autism spectrum disorders (ASDs) in offspring. Animal studies have indicated that maternal gut microbiota is related to neurodevelopmental abnormalities in mouse offspring, while it is unclear whether there is a correlation between gut microbiota of ASD children and their mothers. We examined the relationships between gut microbiome profiles of ASD children and those of their mothers, and evaluated the clinical discriminatory power of discovered bacterial biomarkers. Gut microbiome was profiled and evaluated by 16S ribosomal RNA gene sequencing in stool samples of 59 mother-child pairs of ASD children and 30 matched mother-child pairs of healthy children. Significant differences were observed in the gut microbiome composition between ASD and healthy children in our Chinese cohort. Several unique bacterial biomarkers, such as Alcaligenaceae and Acinetobacter, were identified. Mothers of ASD children had more Proteobacteria, Alphaproteobacteria, Moraxellaceae, and Acinetobacter than mothers of healthy children. There was a clear correlation between gut microbiome profiles of children and their mothers; however, children with ASD still had unique bacterial biomarkers, such as Alcaligenaceae, Enterobacteriaceae, and Clostridium. Candidate biomarkers discovered in this study had remarkable discriminatory power. The identified patterns of mother-child gut microbiome profiles may be important for assessing risks during the early stage and planning of personalized treatment and prevention of ASD via microbiota modulation.
Subject(s)
Adult , Animals , Child , Child, Preschool , Female , Humans , Male , Mice , Autism Spectrum Disorder , Microbiology , Bacteria , Classification , Genetics , Biomarkers , Cohort Studies , Gastrointestinal Microbiome , Mothers , Risk AssessmentABSTRACT
OBJECTIVE@#To delineate the clinical and genetic features of a Chinese boy suspected for Niemann-Pick disease type C.@*METHODS@#The patient underwent clinical examination and was subjected to next generation sequencing. Suspected mutations were validated by Sanger sequencing. Potential impact of the novel mutation was predicted by SIFT, PolyPhen-2 and MutationTaster software.@*RESULTS@#The child has featured hepatosplenomegaly, increased direct bilirubin, jaundiced skin and liver damage. DNA sequencing showed that he has carried compound heterozygous mutations of NPC1 gene, namely c.2728GG (p.P90R), which were inherited from his mother and father, respectively. The c.2728G>A (p.G910S) mutation was previously reported, while the c.269C>G (p.P90R) was a novel mutation.@*CONCLUSION@#The child has suffered from Niemann-Pick disease type C due to mutations of NPC1 gene. Above finding has enriched the spectrum of NPC1 mutations and provided a basis for genetic counseling and prenatal diagnosis.
Subject(s)
Child , Humans , Male , Asian People , Bilirubin , Carrier Proteins , Genetics , High-Throughput Nucleotide Sequencing , Membrane Glycoproteins , Genetics , Mutation , Niemann-Pick Disease, Type C , GeneticsABSTRACT
Objective To evaluate the clinical effect of endoscopic sphineterotomy (EST) and endoscopic sphincterotomy associated with traditional Chinese medicine in the treatment of intrahepafic duct stones.Methods Eighty patients with common bile duet stones and intrahepatic duct stone were randomly divided into a treatment group and a control group.EST associated with traditional Chinese medicine was performed in the treatment group,and EST only was used in the control group.Clinical effects were observed.Results Common bile Duet stone clearance was achieved in 94% patients in the treatment group,contrasting 88% in the control group.There was no significant difference between them (P＞0.05).While intrahepatic duct stone clearance was 74% and 28% respectively in the treatment group and the control group,showing significant difference (P＜0.05).Conclusion It is a good way that endoscopic sphincterotomy associated with traditional Chinese medicine treating intrahepatic duct stones.