Analysis of genetic variants in a case with Rotor syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a patient featuring Rotor syndrome.@*METHODS@#Clinical data of the patient was collected. Whole exome sequencing (WES) based on high-throughput sequencing technology was carried out. Long-interspersed element-1 (LINE-1) insertion in intron 5 of the SLCO1B3 gene was detected by using tri-primer single tube PCR.@*RESULTS@#WES revealed that the patient has carried homozygous c.1738C>T nonsense variants of the SLCO1B1 gene. He was also found to harbor a homozygous insertion of LINE-1 in intron 5 of the SLCO1B3 gene, which has caused skipping of exon 5 or exons 5 to 7 and introduced a stop codon in the SLCO1B3 transcript.@*CONCLUSION@#The homozygous c.1738C>T variant of the SLCO1B1 gene and homozygous insertion of LINE-1 in intron 5 of the SLCO1B3 gene probably underlay the Rotor syndrome in this patient.

Analysis of ANKRD11 gene variant in a family affected with KBG syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a pedigree affected with KBG syndrome.@*METHODS@#Clinical data of three patients from the pedigree (the proband, his mother and sister) was collected. Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing (WES). Suspected variant was verified by Sanger sequencing.@*RESULTS@#The proband was found to harbor a heterozygous c.4398_4401del (p.Glu1467AsnfsTer63) frameshift variant of the ANKRD11 gene by WES. Sanger sequencing confirmed that the same variant was also present in his mother and sister, but not in his father.@*CONCLUSION@#The c.4398_4401de (p.Glu1467AsnfsTer63) variation of the ANKRD11 gene probably underlies the KBG syndrome in this pedigree.

Growth and nutritional status of children with Helicobacter pylori infections / 中华临床感染病杂志

Objective To investigate the effect of Helicobacter pylori ( Hp) infection on the growth and nutritional status in children.Methods A total of 174 children with Hp infections were collected from Jinhua Hospital of Zhejiang University during March 2010 to September 2012, and 100 healthy children were also enrolled as the controls.The differences in age and gender between Hp-infected group and control group were not significant.All Hp-infected children were given first-line anti-Hp therapy and followed-up for two years.t test, repeated measure ANOVA and LSD test were used to analyze the growth and nutritional status between Hp infected children and healthy controls, as well as between HP-infection eradication group and relapse group.Results Among 174 Hp-infected children, 2 were diagnosed as true precocious puberty, 6 abandoned treatment and 8 were lost to follow-up.Among 158 children who completed the study, Hp infection was eradicated in 128 (eradication group), and relapsed in 30 (relapse group).The height, weight, peripheral levels of hematoglobin ( Hb) , Albumin ( Alb) , blood urea nitrogen ( BUN) , Fe and Zn in 158 Hp-infected children at the baseline were significantly lower than those in the healthy control group (t=2.674, 1.657, 12.709, 3.662, 4.227, 4.210 and 14.820, all P 0.05).In the second year of the follow-up, the increases of Alb, BUN, Fe and Zn in eradication group were significantly higher than those in the relapse group ( t=7.86, 5.17, 8.80, 5.92, 2.17 and 7.28, all P <0.05).Conclusion Hp infection may affect the growth and nutritional status of children, and the eradication of Hp infection may help to improve the development and nutritional status of the children.