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Skeleton Genetics: a comprehensive database for genes and mutations related to genetic skeletal disorders

Skeleton Genetics: a comprehensive database for genes and mu...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Chen Chong Xu Chenyang Xiang Yanbao Li Huanzheng Xu Xueqin Tang Shaohua Department of Genetics of Dingli Clinical Medical School Key Laboratory of Birth Defects of Wenzhou Wen zhou Central Hospital School of Laboratory Medicine and Life Science Wenzhou Medical University

Objective Genetic skeletal disorders(GSD) involving the skeletal system arise through disturban ces in the complex processes of skeletal development, growth and homeostasis and remain a dia gnostic challenge because of their clinical heterogeneity and genetic variety. Over the past decad es, tremendous effort platforms have been made to explore the complex heterogeneity, and mass ive new genes and mutations have been identified in different GSD, but the information supplied by literature is still limited and it is hard to meet the further needs of scientists and clinicians. Method Based on the standards of NCGSD-2015, we performed comprehensive searches for GS D-related publications and databases to obtain a complete list of mutation information associated with GSD and using Human Phenotype Ontology and OMIM to describe phenotypic information. Result We developed the first comprehensive and annotated genetic skeletal disorders database, named ?Skeleton Genetics‘, which contains information about all GSD-related knowledge includin g 8225 mutations in 357 genes, with detailed information associated with 481 clinical diseases(2260 clinical phenotype) classified in 42 groups defined by molecular, biochemical and/or radiogra phic criteria from 1698 publications. Further annotations were performed to each entry including Gene Ontology, pathways analysis, protein-protein interaction, mutation annotations, disease-disease clustering and gene-disease networking. Furthermore, by using concise search methods, int uitive graphical displays, convenient browsing functions and constantly updatable features, Conclusion Skeleton Genetics could serve as a central and integrative database for unveiling the genetic and pathways predispositions of GSD. Database URL: http://101.200.211.232/skeletong enetics/

关键词： GSD Ontology Skeleton Genetics a comprehensive database for genes and mutations related to genetic skeletal disorders

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De novo mutation of KAT6B gene in a patient with short stature

De novo mutation of KAT6B gene in a patient with short statu...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Li Guoqiang Li Niu Li Juan Ding Yu YU Tingting Wang Xiumin Wang Jian Institute of Pediatric Translational Medicine Shanghai Children's Medical Center Shanghai Jiaotong University School of Medicine Departments of Medical Genetics Shanghai Children's Medical Center Shanghai Jiaotong University School of Medicine Departments of Endocrinology Shanghai Children's Medical Center Shanghai Jiaotong University School of Medicine Departments of Laboratory Medicine Shanghai Children's Medical Center Shanghai Jiaotong University School of Medicine

Objective Short stature is defined as a height more than two standard deviations(SD) below the mean height for a given age, gender, and population. Short stature in childhood is a common reason for referral to pediatric endocrine clinics. It can be observed under a wide variety of conditions, and over 700 genes are known to be associated with it. Mutations in the KAT6 B gene are responsible for Say-Barber-Biesecker-Young-Simpson syndrome(SBBYSS) and genitopatellar syndrome(GPS), which share some clinical features, including developmental delay and intellectual disability, congenital heart defects, and genital and patellar anomalies, though short stature is not a common feature of *** aim of this research is to explore the genetic basis of the *** Targeted next-generation sequencing was performed on a Chinese pediatric patient who mainly showed short stature but no other obvious symptoms. Sanger sequencing was used to verify of the mutation of KAT6 B gene and evaluate the parents of the patient. Result DNA sequencing revealed a de novo mutation in exon 14 of KAT6 B gene at position c.2636 T>A(***879 X), and the novel nonsense mutation was interpreted to be pathogenic according to the standards and guidelines for the interpretation of sequence variants from American College of Medical Genetics and Genomics(ACMGG). Conclusion To the best of our knowledge, this is the first report of KAT6 B gene mutation in any Chinese individual.

关键词： De novo mutation of KAT6B gene in a patient with short stature

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PKLR polymorphism and gastric cancer risk

PKLR polymorphism and gastric cancer risk

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Bi Yan Zhang Sheng-jian Zhao Wan Yu Tao Li Xingwang He Lin Qiu Li-xin He Guang Bio-X Institutes Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education) Shanghai Jiao Tong University Shanghai Key Laboratory of Psychotic Disorders Shanghai Institute of Mental Health Shanghai Jiao Tong University Fudan University Shanghai Cancer Center Department of Oncology Shanghai Medical College Fudan University Department of Oncology Suzhou Science & Technology Town Hospital Institutes of Biomedical Sciences Fudan University Institute for Nutritional Sciences Shanghai Institutes of Biological Sciences Chinese Academy of Sciences Cancer Institute Collaborative Innovation Center for Cancer Medicine Fudan University Shanghai Cancer Center

Objective Gastric cancer(GCa) is a leading cause of cancer-related death with high incidence worldwide, particularly in China. There have been some genes found to be involved in the initiation and progression of GCa and PKLR is an emerging gene in malignant tumors. The PKLR rs3762272 A>G polymorphism showed association with GCa in seldom literature. We intend to further co nfirm the role of rs3762272 in GCa pathology. Method we performed a hospital-based case-control study recruiting 1115 cases and 1172 controls from a Chinese Han population. Result We found that the Gallele of rs3762272 was associated with areduced risk of GCa [GG vs. AA, OR = 0.62, 95% CI = 0.44-0.88;AG/GG vs. AA, OR = 0.83, 95% CI = 0.70-0.98;GG vs. A A/AG, OR = 0.66, 95% CI = 0.47-0.92]. And the statistical power still significant in subgroups of age, sex, drinking status, smoking status and tumor site respectively. Conclusion Our result in the present study suggest the mild protection role of PKLR rs3762272 in GCa in Chinese Han people.

关键词： PKLR polymorphism and gastric cancer risk

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A novel FOXL2 mutation was identified in one family with both types of blepharophimosis-ptosis-epicanthus inversus syndrome

A novel FOXL2 mutation was identified in one family with bot...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： yang lin xing yiqiao li tuo Department of Ophthalmology Renmin Hospital of Wuhan University Department of Ophthalmology The Central Hospital of Enshi Autonomous Prefecture

Objective Purpose: Blepharophimosis-ptosis-epicanthus inversus syndrome（BPES） is a rare autosomal dominant disease, which has been divided into two types according to whether it has premature ovarian failure. Mutations in FOXL2 has been identified in most patients with *** study aims to identify the causative mutation in FOXL2 in a Chinese family with both types of BPES. Method Methods: Clinical data and genomic DNA were collected from a Chinese family with BPES. All coding exons and adjacent regions of FOXL2 were screened in one affected member to detect causative mutation by Sanger sequencing. The detected mutation would be further screened in available family members as well as 100 normal control chromosomes. Result Results: Seven members of the family were recruited in this study, including four affected and three unaffected. The patient II: 5 showed typical features of type II BPES characterized by a narrowed horizontal palpehral aperture, ptosis, epicanthus inversus and telecanthus without premature ovarian failure（POF）, whereas all her three daughters（III:1, III:2, III:3） were diagnosed with type I BPES, in which a complex eyelid malformation is accompanied with POF. A novel heterozygous mutation in FOXL2（c.84460 dup17, ***291 Argfs*71） was found in the four affected members and was absent in the other three unaffected members as well as 100 control chromosomes. Conclusion Conclusions: A novel duplicate mutation（c.84460 dup17, ***291 Argfs*71） in FOXL2 was identified in a Chinese family with both types of BPES. Our findings expand the mutation spectrum of the FOXL2 gene and confirmed the intra-family phenotypic heterogeneity of BPES.

关键词： A novel FOXL2 mutation was identified in one family with both types of blepharophimosis-ptosis-epicanthus inversus syndrome

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Association study of GRM7 polymorphisms with major depressive disorder in the Chinese Han population

Association study of GRM7 polymorphisms with major depressiv...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Niu Weibo Huang Xiaoye Chen Shiqing Li Xingwang Wu Xi Cao Yanfei Zhang Rui Bi Yan Yang Fengping Wang Lu Li Weidong Xu Yifeng He Lin Yu Tao He Guang Bio-X Institutes Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education) Shanghai Jiao Tong University Institute for Nutritional Sciences Shanghai Institutes of Biological Sciences Chinese Academy of Sciences Shanghai Key Laboratory of Psychotic Disorders Shanghai Institute of Mental Health Shanghai Jiao Tong University Institutes of Biomedical Sciences Fudan University

Objective Major depressive disorder(MDD) is a severe and polygenic psychiatric disorder with hi gh heritability. There is an evidence that metabotropic glutamate receptor 7(GRM7) is associate d with schizophrenia, bipolar disorder(BP), attention deficit hyperactivity disorder(ADHD) and M DD. In this study, we investigated whether single nucleotide polymorphisms(SNPs) in GRM7 wer e associated with MDD. Method We carried out a case-control study that was to genotype four single nucleotide polymorp hisms(SNPs)(rs9814881, rs13353402, rs9870680 and rs1531939) in 568 major depressive disor der patients and 846 healthy controls of Chinese Han origin. Result The results showed that SNP rs9814881 in GRM7 displayed the significant genotype distri bution with MDD(P = 0.0287). Nevertheless, there was no association in allele frequencies. Conclusion In summary, the results of this study indicate that the GRM7 might be associated wit h major depressive disorder in Chinese Han population.

关键词： MDD Association study of GRM7 polymorphisms with major depressive disorder in the Chinese Han population

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Bioinformatics analysis of gene expression profiles of dermatomyositis

Bioinformatics analysis of gene expression profiles of derma...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Chen Liangyuan Department of Medical Genetics Fuzhou General Hospital

Objective Dermatomyositis(DM) is a type of autoimmune inflammatory myopathy, which primaril y affects the skin and muscle. The underlying mechanisms of DM remain poorly understood. The present study aimed to explore gene expression profile alterations, investigate the underlying me chanisms, and identify novel targets for DM. Method The GSE48280 dataset, which includes data from five DM and five normal muscle tissue samples, was obtained from the Gene Expression Omnibus. Firstly, differentially expressed gene s(DEGs) were screened by limma package in R. Subsequently, functional and pathway enrichme nt analyses were performed using Clue GO from Cytoscape. Finally, protein?protein interaction(P PI) networks were constructed using STRING and Cytoscape, in order to identify hub genes. Result As a result, 180 upregulated and 21 downregulated genes were identified in the DM samp les. The Gene Ontology enrichment analysis revealed that the type I interferon(IFN) signaling pat hway was the most significantly enriched term within the DEGs. The Kyoto Encyclopedia of Gene s and Genomes pathway analysis identified 27 significant pathways, the majority of which can be divided into the infectious diseases and immune system categories. Following construction of PPI networks, 24 hub genes were selected, all of which were associated with the type I IFN signaling pathway in DM. Conclusion The findings of the present study indicated that type I IFNs may have a central role i n the induction of DM. In addition, other DEGs, including chemokine(C?C motif) ligand 5, C?X?C motif chemokine 10, Toll?like receptor 3, DEXD/H?Box helicase 58, interferon induced with helic ase C domain 1, interferon?stimulated gene 15 and MX dynamin?like GTPase 1, may be potentia l targets for DM diagnosis and treatment.

关键词： Cytoscape Bioinformatics analysis of gene expression profiles of dermatomyositis

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GRIN2A polymorphism rs1448258 associated with schizophrenia in Chinese Han population

GRIN2A polymorphism rs1448258 associated with schizophrenia ...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Hu jiaxin Bio-X Institutes Shanghai Jiaotong university

Objective Schizophrenia is a polygenetic and clinically heterogeneous disorder with early mortalit y and high heritability. Some studies indicated the dysfunction of neurotransmission mediated by t he downregulated expression of N-methyl-D-aspartic acid receptors(NMDARs) were manifested i n schizophrenic patients. In our study, we employed some statistical approaches to verify whethe r the single nucleotide polymorphisms(SNPs) in RIN2 A underlying an important role in the patho genesis of schizophrenia. Method We recruited 1616 unassociated Han Chinese participants, including 752 schizophrenic patients and 846 normal subjects. Each patient was diagnosed based on DSM-IV(Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition) criteria. We genotyped three SNPs of GRI N2 A in 752 schizophrenic patients and 846 normal controls. Genotyping of SNPs was conducted through a matrix-assisted laser desorption/ionization time-of-flight(MALDI-TOF) mass spectromet er using the Mass ARRAY? Analyzer 4 platform(Sequenom, CA, USA). Finally, we employed so me computer tools to conduct the statistic analyisis. Result Consequently, our three SNPs all meet Handy-Weinberg equilibrium. In terms of significa nce of this polymorphism, it showed a positive association with schizophrenia before correction b oth in the allele and genotype distribution(P = 0.02584 and P = 0.02340 respectively). The result of logistic regression analysis in R showed the C/C allele was significantly associated with schizo phrenia in the codominant model(P=0.0231). Result of stratification model showed that rs1448258 remained to be positively associated with schizophrenia in the female group(P=0.01813) but no t the male group. Conclusion Our study is the first time that rs1448258, the SNP of GRIN2 A has been identified, in Chinese Han population, to be associated with the schizophrenia. Our linkage disequilibrium anal ysis suggested these three SNPs formed a block and associated with schizophrenia in

关键词： GRIN2A polymorphism rs1448258 associated with schizophrenia in Chinese Han population

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Association study of GRIK4 polymorphisms and major depressive disorder in the Han Chinese population

Association study of GRIK4 polymorphisms and major depressiv...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Ren Decheng Bio-X institute Shanghai Jiaotong university

Objective Major depressive disorder(MDD) is a common and complex mental disorder characte rized by depression. Recent studies found that glutamate ionotropic receptor kainate type subunit 4(GRIK4) is associated with the MDD and the gene GRIK4, therefore, may be a candidate gene f or many mental disorder especially MDD. In this study, we investigated whether single nucleotide polymorphisms(SNPs) in GRIK4 were associated with *** In the case-control study, we recruited 568 unrelated major depressive disorder patients and 846 healthy controls. All patients were diagnosed on the basis of DSM-IV criteria. We had ge notyped five SNPs using the matrix-assisted laser desorption/ionization time of flight(MALDI-TOF) mass spectrometer on Mass ARRAY? Analyzer 4 platform(Sequenom, San Diego, CA). Design of probes and primers was by using the Mydequenom online software--the accompanying Assay Design Suite v2.0. Several softwares was conducted to do the statistic analysis. Result The results showed that rs56275759 demonstrated statistically significant difference betw een MDD patients and control subjects both in allelic frequencies(P value = 0.011449) and genot ypic frequencies(P value = 0.029024). Rs4582985 was deviated from the Hard-Weinberg equilibr ium so we excluded it from further analysis. Strong LD was found among rs4582985, rs6589847 and rs56275759, and the significant association between this block and MDD was found. Conclusion In summary, our results indicated that rs56275759 in GRIK4 might be correlated with MDD in the Han Chinese population. MDD, a severe and complex psychiatric disorder, is affecte d by many elements such as genetic, psychological and environmental factors. The study may pr ovide a reference for future studies of MDD. The SNPs we studied may be used as a marker for p redicting the MDD in the disease diagnose.

关键词： MDD Association study of GRIK4 polymorphisms and major depressive disorder in the Han Chinese population

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Effects of G6PD activity inhibition on the mechanical properties and cytoskeletons of cervical cancer cells

Effects of G6PD activity inhibition on the mechanical proper...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Fang ZiShui Jiang ChengRui Feng Yi Chen RiXin Lin XiaoYing Zhang ZhiQiang Han LuHao Chen XiaoDan Li HongYi Guo YiBin Jiang WeiYing Sun Yat-sen University

Objective Glucose-6-phosphate dehydrogenase(G6 PD) deficiency has been revealed to be involved in the efficacy to anti-cancer therapy but the mechanism remains unclear. In our previous study, we haveobserved increased ROS generation caused by the inhibition of G6 PD activity using Dehydroepiandrosterone(DHEA) and sh RNA technology. We aimed to investigate the further anti-cancer mechanism of G6 PD deficiency. Method In the present study, Peak Force QNM Atomic Force Microscopy was used to assess the changes of topography and biomechanical properties of cells and detect the effects on living cells in a natural aqueous environment. Moreover, Laser Scanning Confocal Microscope was used to observe the alterations in cytoskeleton to explore the involved mechanism. Result When G6 PD was inhibited by DHEA or sh RNA interference, the abnormal Young‘s modulus and increased roughness of cell membrane were observed in He La cells. Simultaneously, the inhibition of G6 PD activity caused the disorganization of microfilaments and microtubules of cytoskeletons. Conclusion Our results indicated the anti-cervix cancer mechanism of G6 PD deficiency may be involved with the abnormal reorganization of cell cytoskeleton and abnormal biomechanical properties caused by the increased ROS due to the inhibition of G6 PD activity. The results suggested suppression of G6 PD may be a promising strategy in developing novel therapeutic methods for cervical cancer.

关键词： Effects of G6PD activity inhibition on the mechanical properties and cytoskeletons of cervical cancer cells

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Human Oocyte Maturation Arrest Caused by A Novel Missense Mutation in TUBB8

Human Oocyte Maturation Arrest Caused by A Novel Missense Mu...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Li Haibo Xiang Jingjing Wang Wei Qian Chunfeng Li Hong Center for Reproduction and Genetics The affiliated Suzhou Hospital of Nanjing Medical University Center for Reproduction and Genetics Suzhou Municipal Hospital

Objective To investigated the mutations of TUBB8 gene in a patient with oocyte maturation arres t at metaphase I. Method Peripheral blood was collected from the patient, her elder sister and their mother after giv ing informed consent. All four exons and intron-exon boundaries of the TUBB8 gene were amplifi ed by polymerase chain reaction（PCR） using Faststart Taq DNA polymerase. The amplified DNA fragments were purified and sequenced in both directions using ABI 3130 Genetic Analyzer. The resulting sequences were compared with the reference sequence of TUBB8（NM77987.2） in th e NCBI database. Result Sequencing analysis revealed a heterozygous mutation c.760 G>T in TUBB8 gene in two affected sisters with persistent infertility, which was not detected in their *** to a lack of g enetic information regarding their father, the heterozygous mutation was inherited with an unknow n pattern. The mutation c.760 G>T found within exon 4 TUBB8 gene of is a novel heterozygous mi ssense mutation, which converts a highly conserved alanine residue to a serine in TUBB8 protein（p.A254 S）. This mutation is not found in db SNP（http://***/SNP/） or in the 1000 Genomes Project database（http://www.1000 ***/）. In addition, the alanine residue is e volutionarily conserved among primate *** mutation indicated a strong pathogenic proba bility by bioinformatics tools for functional prediction with Poly Phen-2（***/p ph2） and Mutation Taster（***）. Conclusion Our finding expanded the known mutation spectrum of TUBB8 gene and confirmed t he key role of TUBB8 in meiotic spindle assembly and human oocyte maturation.

关键词： Human Oocyte Maturation Arrest Caused by A Novel Missense Mutation in TUBB8

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