Clinical and genetic analysis of a patient with Mowat-Wilson syndrome / 中华医学遗传学杂志

OBJECTIVE@#To summarize the clinical phenotype and genotype of a Chinese child affected with Mowat-Wilson syndrome (MWS).@*METHODS@#Clinical data of the patient were collected. The patient was analyzed by whole-exome sequencing (WES) as well as Sanger sequencing.@*RESULTS@#The patient was a male infant with recurrent fever and slow growth. He also had characteristic facies, recurrent spasm, and growth retardation. WES revealed that he has carried a heterozygous nonsense c.2609C>G (p.Ser870X) variant of the ZEB2 gene (30% mosaicism). Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+PS1+PS2+PM2).@*CONCLUSION@#The c.2609C>G variant of the ZEB2 gene probably underlay the MWS in this child. The mosaicism of the variant may explain his mild symptoms.

Change of lipxin A4, leukotriene B4 and 15-1ipoxygenase in chiMren with acute poststreptococcal glomerulonephritis / 中华肾脏病杂志

ObjectiveTo investigate the change of lipoxin A4 (LXA4), leuotriene B4(LTB4) in blood and urine and leukocyte 15-lipoxygenase (15-LO) of the children with acute poststreptococcal glomendonephritis (APSGN) and to evaluate its significance. MethodsBlood and urinary levels of LXA4 and LTB4 were measured with ELISA within 3 days (acute phase), 10 to 14 days (early resolution phase) and 6 to 8 weeks (late resolution phase) respectively after onset of APSGN in 22 patients. In 8 children with APSGN, expression level of leukocyte 15-LO mRNA was examined with RT-PCR. Leukocyte LTB4 synthesis was assessed with ELISA. Chemotactic effect of LTB4, LXA4 and 15-S-hydroxyeicosatetraenoic acid (15-S-HETE) on neutrophils was determined by in vitro chemotaxis assay. Twenty-two healthy children were served as control. ResultsBlood and urinary levels of LXA4 and leukocyte 15-LO mRNA were up-regnlated in acute phase, further increased in early resolution phase, and decreased in late resolution phase of APSGN, which were stir higher than those in the controls (P＜0.01). Blood and urinary levels of LTB4 were increased in acute phase (P＜0.01) and then were decreased in early resolution phase and hte resolution phase of APSGN, which were still higher than those in the controls (P＜0.01). Administration of 15-S-HETE or LXA4 in vitro inhibited LTB4-induced chemotactic effect on neutrophils of the patients,and inhibited the production of leukocyte LTB4. ConclusionsChanges of blood and urinary levels of LXA4 and LTB4 in early resolution phase of APSGN are contrary. 15-S-HETE and LXA4may play a role in anti-inflammation and resolution of APSGN via inhibiting LTB4.