A novel variant in the GJB6 gene in a large Chinese family with a unique phenotype of Clouston syndrome / 医学前沿

Clouston syndrome (OMIM #129500), also known as hidrotic ectodermal dysplasia type 2, is a rare autosomal dominant skin disorder. To date, four mutations in the GJB6 gene, G11R, V37E, A88V, and D50N, have been confirmed to cause this condition. In previous studies, the focus has been mainly on gene sequencing, and there has been a lack of research on clinical manifestations and pathogenesis. To confirm the diagnosis of this pedigree at the molecular level and summarize and analyse the clinical phenotype of patients and to provide a basis for further study of the pathogenesis of the disease, we performed whole-exome and Sanger sequencing on a large Chinese Clouston syndrome pedigree. Detailed clinical examination included histopathology, hair microscopy, and scanning electron microscopy. We found a novel heterozygous missense variant (c.134G>C:p.G45A) for Clouston syndrome. We identified a new clinical phenotype involving all nail needling pain in all patients and found a special honeycomb hole structure in the patients' hair under scanning electron microscopy. Our data reveal that a novel variant (c.134G>C:p.G45A) plays a likely pathogenic role in this pedigree and highlight that genetic testing is necessary for the diagnosis of Clouston syndrome.

Genomic analysis of Wenzhou virus in rodents from Zhejiang province / 中华流行病学杂志

Objective Arenavirus is a negative single-stranded RNA virus and an important human pathogen,mainly harbored and transmitted by rodents,causing severe diseases,including hemorrhagic fever and encephalitis.Following the discovery of a novel pathogenic arenavirus (Wenzhou virus,WENV),the prevalence of WENV in local small rodents was investigated.Methods By using RT-PCR,WENV was screened in 48 and 156 rodents sampled from Wenzhou and Longquan,respectively.Results Consequently,WENV was detected in 5 (10.41％) rodents sampled from Wenzhou.However,no WENV was identified in all the rodents sampled from Longquan.Genetic analysis of complete genome sequences indicated that 4 of 5 virus strains were closely related to the known Wenzhou viruses with high homology.Especially,the L and S segments of Wencheng-Rn-288 strain shared homology of 87.5％ and 91.6％ with other viruses,respectively.They formed a distinct lineage,suggesting that this strain might be a novel variant of WENV.Conclusions Our results indicate that WENV has a high prevalence and high genetic diversity among rodents in Wenzhou.As the respiratory disease caused by WENV has been detected in Cambodia,it is necessary to strengthen the surveillance for WENV in China.

Genomic analysis of Wenzhou virus in rodents from Zhejiang province / 中华流行病学杂志

Objective Arenavirus is a negative single-stranded RNA virus and an important human pathogen,mainly harbored and transmitted by rodents,causing severe diseases,including hemorrhagic fever and encephalitis.Following the discovery of a novel pathogenic arenavirus (Wenzhou virus,WENV),the prevalence of WENV in local small rodents was investigated.Methods By using RT-PCR,WENV was screened in 48 and 156 rodents sampled from Wenzhou and Longquan,respectively.Results Consequently,WENV was detected in 5 (10.41％) rodents sampled from Wenzhou.However,no WENV was identified in all the rodents sampled from Longquan.Genetic analysis of complete genome sequences indicated that 4 of 5 virus strains were closely related to the known Wenzhou viruses with high homology.Especially,the L and S segments of Wencheng-Rn-288 strain shared homology of 87.5％ and 91.6％ with other viruses,respectively.They formed a distinct lineage,suggesting that this strain might be a novel variant of WENV.Conclusions Our results indicate that WENV has a high prevalence and high genetic diversity among rodents in Wenzhou.As the respiratory disease caused by WENV has been detected in Cambodia,it is necessary to strengthen the surveillance for WENV in China.

Emergence of novel variants of gyrA, parC, qnrS genes in multi-drug resistant Klebsiella caused pneumonia / 中华流行病学杂志

Objective To investigate the resistant mechanism of quinolones on multi-drug resistant Klebsiella caused pneumonia(MDR-KPN).Methods From August 2008 to May 2010,47 strains of MDR-KPN were collected from 6 hospitals in Hangzhou and Huzhou in Zhejiang province in China.Drug target genes to quinolones (gyrA,parC) and quinolone-resistance genes mediated by mobile genetic elements [qnrA,qnrB,qnrS,aac (6')-Ⅰ b-cr,qepA] were analyzed by PCR and verified by DNA sequencing.Results Positive results were found in 47 strains of MDR-KPN,43 strains (91.5％) of gyrA mutation,40 strains(85.1％) ofparC mutation,3 strains (6.4％) of qnrB2,1 strain (2.1％) ofqnrB 4,8 strains (17.0％) ofqnrS 1,5 strains (10.6％) of qnrS 4,2 strains (4.3％)of aac (6')-Ⅰ b-cr respectively.Moreover,5 novel variants of gyrA (GenBank accession number:JN811952,JN811953,JN811954,JN811955,JN811956),5 novel variants of parC (GenBank accession number:JN817432,JN817433,JN817434,JN817435,JN817436)were also identified.In addition,qnrS4 (GenBank accession number:JN836269) appeared to be the novel variants of qnrS.Conclusion Quinolone-resistance-determining region played a key role on the resistance to quinolones in this group of MDR-KPN,and quinolone-resistance genes mediated by mobile genetic elements [qnrB2,qnrB4,qnrS1,qnrS4,aac (6')-Ⅰ b-cr] showed positive in some parts of the strains.This was the first report on emergence of qnrS4 in the world.

A novel variant of topoisomerase Ⅳ gene in a group of pan-drug resistant Acinetobacter baumannii / 中华微生物学和免疫学杂志

Objective To investigate the existence and variance of quinolone-resistance genes in a group of pan-drug resistant of Acinetobacter baumannii ( A.baumannii ).Methods Twenty strains of pandrug resistant A.baumannii were isolated from patients registered in Affiliated Hospital of Nantong University from January 2011 to April 2011.Drug target genes to quinolone (gyrA,parC) and quinolone-resistance genes mediated by mobile genetic elements [ qnrA,qnrB,qnrS,aac(6')-Ⅰ b-cr,qepA] were analyzed by PCR and verified by DNA sequencing.Results In all 20 strains of A.baumannii,the sense mutation was found in the quinolone resistance-determining region of the gyrA gene in the form of TCA to TTA at codon 83 (Ser-83-Leu).Moreover,in the quinolone resistance-determining region of the parC gene sense mutation was found in the form of TCG to TTG at codon 80 (Ser-80-Leu) and 3 synonymous mutations were CCC to CCT at codon 40,GTA to GT]T at codon 41 and CGT to CGC at codon 44.And parC gene was a new mutation.However,mutations were not found in quinolone-resistance genes mediated by mobile genetic elements [ qnrA,qnrB,qnrS,aac( 6 ' )-Ⅰ b-cr,qepA ].Conclusion Quinolone-resistance-determining region play a key role in resistance to quinolones in this group of A.baumannii.To our knowledge,this is first report about the emergence of the new mutation of parC gene in China.