Analysis of FGD1 gene variant in a child with Aarskog-Scott syndrome / 中华医学遗传学杂志

OBJECTIVE@#To detect pathogenic variant of the FGD1 gene in a boy with Aarskog-Scott syndrome.@*METHODS@#Genetic variant was detected by high-throughput sequencing. Suspected variant was verified by Sanger sequencing. The nature and impact of the candidate variant were predicted by bioinformatic analysis.@*RESULTS@#The child was found to harbor a novel c.1906C>T hemizygous variant of the FGD1 gene, which has led to conversion of Arginine to Tryptophane at codon 636(p.Arg636Trp). The same variant was found in his mother but not father. Based on the American College of Medical Genetics and Genomics guidelines, the c.1906C>T variant of FGD1 gene was predicted to be likely pathogenic(PM1+PM2+PM5+PP2+PP3+PP4).@*CONCLUSION@#The novel c.1906C>T variant of the FGD1 gene may underlay the Aarskog-Scott syndrome in this child. Above finding has enabled diagnosis for the boy.

Gene mutations in 32 family with phenylketonuria / 中华实用儿科临床杂志

Objective By detecting the mutations spectrum of phenylalanine hydroxylase(PAH)gene in phe-nylketonuria(PKU)patients and their parents. The researchers analyzed the gene mutation features and high - frequency mutations and determined the relationship between the genotype and the phenotype,which would provide a theoretical basis for the early diagnosis and genetic consultation of PKU children in the region. Methods In this study,13 exons and their flanking introns of the PAH gene in 32 PKU patients and their parents from Wuxi and Suqian in Jiangsu province were sequenced by using the next - generation sequencing(NGS)technology. Results Sixty - one mutant sites and 32 mutant genes were detected in 32 PKU patients,and the mutation detection rate was 95. 31%(61 / 64 cases). The variants at c. 721C ﹥ T,c. 1068C ﹥ A,c. 611A ﹥ G,c. 1197A ﹥ T,c. 728G ﹥ A,c. 331C ﹥ T and c. 442 -1G ﹥ A were common mutations in the region with mutation frequency over 5% . What's more,4 novel variants of c. 699C ﹥ G,c. 265C ﹥ T,c. 722G ﹥ A and c. 1194A ﹥ G were found. Of those,c. 699C ﹥ G was not recorded in the PAH variant database and HGMD database and. c. 265C ﹥ T,c. 722G ﹥ A,and c. 1194A ﹥ G were first reported in the Chi-nese population. Genotype - accurate biochemical phenotype correlation by using the Guldberg AV system revealed con-sistency rate of 38. 0%(8 / 21 cases),which the consistency rate between accurate biochemical phenotype and predic-tive phenotype of moderate to severe genotype was 92. 3%(12 / 13 cases),and mild genotype was 50. 0%(4 / 8 cases). Conclusions The PAH gene variants of PKU patients in Jiangsu province are distributed mainly in exons 7,of which the highest frequency gene mutation is c. 721 c ﹥ T. Moreover,one novel variant c. 699C ﹥ G was reported for the first time. The PKU children inherit the PAH mutation gene mainly from both parents. There are definite correlation between the genotypes and phenotypes.

Relationship between serum 25-hydroxy vitamin D3 concentration and obesity childhood / 中华实用儿科临床杂志

Objective To examine the relationship between the concentration of 25-hydroxy vitamin D3 [25-(OH) D3] in the serum and the body mass,the severity of obesity,body mass index(BMI),blood lipid,and their predicting role in obesity children.Methods The study recruited 244 subjects,who see the doctor in Wuxi Maternal and Child Health Hospital,Childhood Nutrition Outpatient from Jul.2011 to Feb.2013.The intake dose of vitamin D each day was investigated,and weight,height,BMI,concentration of 25-(OH) D3 in serum,and microelement were also measured.In addition,lipid metabolism of 38 cases with obesity over 3 years old was determined.Results 1.The serum 25-(OH) D3 concentration of obese children was (68.31 ± 23.06) nmol/L.The concentration of 25-(OH) D3 was lowest in the group of obese children over 36 months of age[(55.03 ± 15.18) nmol/L].2.The concentration of 25-(OH) D3 in the group of obese and overweight children was far lower than that of the children in the normal group (F =4.739,P ＜0.05).3.The concentrations of 25-(OH) D3 in the severely obese children was significantly lower than that of the mild and moderate obesity children(F =9.711,P ＜ 0.05).4.There were significantly inverse associations of serum 25-(OH) D3 with weight,weight and height percentage,BMI (r =-0.365,-0.237,-0.175,all P ＜ 0.001).5.There were significantly inverse associations between the concentration of 25-(OH) D3 in serum with weight,triglyceride in obese children more than 3 years old (r =0.476,-0.324,all P ＜ 0.05).Conclusions The decreasing level of 25-hydroxy vitamin D3 in the serum was associated with obesity.The cause of it might be the increase of the obese adipose tissue,vitamin D getting trapped in fat cells,and all these factors can lead to a less serum vitamin D levels.The vitamin D consumption of obese children is higher than that of normal children,and should supply more vitamin D to reach normal 25-(OH) D3 level.