Mutation analysis of AAAS gene in a child with Allgrove syndrome / 中华内分泌代谢杂志

Objective To study the AAAS gene mutations in a child with autosomal recessive Allgrove syndrome. Methods Clinical data were collected and blood samples were obtained from the proband of Allgrove syndrome and her parents. Genomic DNA was extracted and sequenced by PCR amplification. Subclone sequencing was performed to validate the gene mutations. The disease-causing potentials of mutation genes were evaluated by the Mutation Taster, and the target protein tertiary structure was modelled by the Swiss Model. Results A new heterozygous insertion mutation(c. 1347_1348insG) of exon 15 in the proband was identified and firstly reported. Other two reported mutations were detected, which were the heterozygous mutation c. 688C>T in the patient and her mother, and the homozygous mutation c. 855C>T in the proband and her parents. In addition, it was confirmed that the novel compound heterozygous mutations(c. 688C>T, c. 1347_1348insG) in the AAAS gene of the proband were pathogenic mutation locus. Conclusion The heterozygous mutation(c. 1347_1348insG) of AAAS gene was firstly reported. In case of the patients being clinically misdiagnosed, related-gene detection should be performed for the patients who were diagnosed with primary adrenal insufficiency during the period of infants and young childhood.

Early-noninvasive measurements about endothelial function in obese children / 国际儿科学杂志

Along with the high prevalence of obesity in children and adolescents,obesity can lead to im-paired glucose tolerance,dyslipidemia,elevation of blood pressure,the risk of metabolic syndrome,diabetes,and cardiovascular and cerebrovascular diseases gradually increases.As end-event cardiovascular disease(CVD)is hardly present in childhood,there is a critical need for early markers to assess,predict,and treat the children who are vulnerable to developing CVD.For mitigating the incidence of future CVD through early detection and pre-vention programs,this paper reviews the relationship between endothelial dysfunction and immunologic dysfunc-tion,chronic inflammation,oxidative stress,insulin resistance.And it also provides a critical overview on early-noninvasive measurements about endothelial function in obese children.

FTO polymorphisms associated with metabolic components in Chinese obese children / 中国现代医生

Objective To investigate whether FTO gene SNP polymorphisms were associated with metabolic traits in Chinese children. Methods A total of 595 children aged between 6 and 17 years were enrolled. The five common SNPs in the FTO gene(rs1421085,rs17817449,rs8050136,rs3751812 and rs9939609)were genotyped. Metabolic compo-nents and insulin were measured. Results (1)The obese patients showed the components of the metabolic traits were significant difference compared to control group.(2)The allele frequency and the genotype distribution of the five SNPs were significant differences between two groups. Minor allele carriers of the five SNPs were associated with increased risks of childhood obesity compared with the wild-type genotype. (3)After adjustment of age, sex and BMI-z score,all of the five SNPs showed a trend towards higher SBP. In addition, rs3751812 and rs8050136 showed significant as-sociation with LDL-C and HOMA-IR levels. Conclusion The five common SNPs in the FTO gene contributes to the e-tiology of obesity and hypertension. The FTO gene polymorphisms (rs3751812 and rs8050136)are found to be associ-ated with increased insulin resistance and plasma LDL levels.