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A genetic variant altering ZNF804A expression is associated with increased risk of Autism Spectrum Disorder in Han Chinese Populations

A genetic variant altering ZNF804A expression is associated ...

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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： Qin Yue Zhang Linna Gong Xiaohong Tao Wufan Wang Hongyan Obstetrics and Gynecology Hospital of Fudan University School of Life Sciences Fudan University Shanghai Jiao Tong University School of Medicine

Objective Autism spectrum disorder(ASD) is characterized with deficiencies in social interaction and repetitive behaviors(DSM-5). According to a report from the United States in 2012, the preva lence of ASD reached 1 in 68. ZNF804 A was found as a risk gene for ASD by CNV analyses. Fe w reports were addressed about the association between ZNF804 A and ASD except rs7603001. I n this study, we investigated the association of ZNF804 A(2 q32.1) mutations to the risk of ASD an d its possible pathological role in the disorder. Method Noncoding regions of ZNF804 A, including the promoter, 5‘ and 3‘ UTR, were sequenced in case-control 1056 samples from Chinese Han populations. Common variants(MAF>0.1) in ZN F804 A were filtered out for association study and haplotype analysis. In the subsequent analysis, RT-q PCR, EMSA, Ch IP and luciferase assays were performed to investigate the function of two Z NF804 A variants. Brain tissues used in our study from terminations of pregnancy in second-trime ster were provided by Tianjin Children‘s Hospital. Result Two SNPs(single nucleotide polymorphism) were filtered out during association study as they are significantly associated with high incidence of ASD. SNP1 has rs number in the db SNP d atabase, but there is no previous report for its function in any disease. SNP1 was a biallelic varian t T/C, and it was shown that T was a risk allele with ASD. Both SNP1 and another SNP(SNP2), which was less significant than SNP1 under five genetic models, together with two previous repor ted SNPs(rs7597593 and 1344706) in ZNF804 A were analyzed for haplotype. There are 16 poss ible haplotypes for those four SNPs. Three of the haplotypes had significant differences(T-A-C-A, P=0.0027;T-A-T-C, P=0.036 and C-G-T-C, P=0.017) in case-control samples. RT-q PCR of the b rain tissues indicated that SNP1(C>T) variant may reduce the expression level of ZNF804 A. ZNF804 A m RNA levels in individuals with TT genotype are significantly lower than that with CC

关键词： ASD A genetic variant altering ZNF804A expression is associated with increased risk of Autism Spectrum Disorder in Han Chinese Populations

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DNA methylation regulation of gabrb2 mRNA expression disrupted in L-Methionine-induced zebrafish with schizophrenia-like symptoms

DNA methylation regulation of gabrb2 mRNA expression disrupt...

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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： Wang Lijuan Jiang Wei Lin Qing Zhang Yiyue Zhao Cunyou Department of Medical Genetics School of Basic Medical Sciences South Medical University Key Laboratory of Zebrafish Modeling and Drug Screening for Human Diseases of Guangdong Higher Education Institutes Department of Developmental Biology Institute of Genetic Engineering School of Basic Medical Sciences Southern Medical University

Objective In this study, a zebrafish animal model was used to evaluate the relationship between t he gabrb2 m RNA expression and its promoter DNA methylation in developmental and MET-induc ed schizophrenia-like zebrafish, in order to better understand the plausible epigenetic mechanism of GABAergic system underlying schizophrenia pathogenesis. Method Methylation dynamic pattern during zebrafish development was assayed with HpaⅡ/Ms pⅠ enzyme digestion followed by Fluorescence polarization based measurement of DNA methyl ation(FPDM) method for global genome, and quantitative real-time PCR(q PCR) method for gabr b2 specific promoter ***2 m RNA expression pattern during zebrafish development was assayed with q PCR method after total RNA reverse transcript into total c ***2 m RNA distr ibution during zebrafish central nervous system(CNS) development was assayed with Whole-mo unt in-situ hybridization(WISH).Three Behavioral tests performed,with 30 minutes pre-acclimation in the testing room. Novel tank test was for general mental status and locomotor activity measure ment. Social interaction test was for social preference judgment. T-maze tank test was for cogniti ve ability *** MET exposure, methylation changes of global genome was detected by FP DM and specific promoter regions of gabrb2, gad1 b, gad2 and slc6 a1 b was detected by q PCR. Result The results indicated developmental increases in global DNA methylation and decreases i n gabrb2 promoter methylation in zebrafish. A significant increase in gabrb2 m RNA levels was ob served after GABA was synthesized. Additionally, the MET-triggered schizophrenia-like symptom s in adult zebrafish, involving social withdrawal and cognitive dysfunction analyzed with social inte raction and T-maze behavioral tests, were accompanied by significantly increased DNA methylati on levels in the global genome and the gabrb2 promoter. Furthermore, the significant correlation between gabrb2 m RNA expression and gabr

关键词： DNA methylation regulation of gabrb2 mRNA expression disrupted in L-Methionine-induced zebrafish with schizophrenia-like symptom

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The interaction of CACNA1C and SCN5A variants leads to early repolarization syndrome in males

The interaction of CACNA1C and SCN5A variants leads to early...

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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： Shen Yang Liu Xin Xie Jinyan Bao Huihui Cao Qing Wan Rong Xu Xiaoming Zhou Hui Huang Lin Xu Zhenyan Zhu Wengen Hu Jinzhu Li Juxiang Su Hai Cheng Xiaoshu Hong Kui Jiangxi Province Key Laboratory of Molecular Medicine Department of Cardiovascular medicine the Second Affiliated Hospital of Nanchang University Department of Forensic Medicine Medical College of Nanchang University

Objective Genetic variations leading to early repolarization(ER) syndrome(ERS) are not fully understood. Our aim was to identify the genetic causes in a large ERS family and explore the underlying mechanisms and personalized treatment. Method A large Chinese family affected with ERS was described and the susceptibility genes were screened by direct sequencing. The electrophysiological characterization of mutant channel was analyzed by whole-cell patch-clamp techniques and the expression and localization of channel was examined by membrane protein isolation and immunofluorescence. A human ventricular cell simulation was used to evaluate the effects of the mutant channel on the action potential. Result Five of six young adult male family members experienced nocturnal sudden death. An ER electrocardiography pattern was observed in III: 5, III: 7, IV: 3, and IV: 4. Seven variants in the Ltype calcium channel(CaV1.2α1 C) gene CACNA1 C(one mutation c.A5747 G-p.Q1916 R and six benign polymorphisms) and a known gain-of-function polymorphism in the sodium channel gene SCN5 A(c.3578 G>A-p.R1193 Q) were identified. For the incomplete penetrance, we innovatively established a genotype-phenotype scoring system according to the possible contributors(CACNA1 CQ1916 R: 1, SCN5 AR1193 Q:-1, male: 1) and observed a positive correlation between the points and the ER pattern. In the functional analyses, the mutated calcium current was reduced by 60% compared with the wild-type current, and this reduction could be improved by treatment with the β-adrenergic receptor agonist isoproterenol but exacerbated by testosterone. The overall expression of mutated Cav1.2α1 C protein decreased without a trafficking defect. The single cell action potential simulation revealed that the impaired L-type Ca2+ current caused by CACNA1 CQ1916 R led to ventricular transmural heterogeneity of electrical activity in the ER stage and testosterone might aggravate the voltage gradients between different myocardi

关键词： The interaction of CACNA1C and SCN5A variants leads to early repolarization syndrome in males SCN

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MiR-197 rescues the neurogenesis defects caused by autistic MECP2 mutation

MiR-197 rescues the neurogenesis defects caused by autistic ...

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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： Hongyan Wang Yumeng Wang Yufang Zheng Yasong Du Institute of Reproduction & Development Obstetrics & Gynecology Hospital Fudan University The State Key Laboratory of Genetic Engineering at School of Life Sciences Fudan University Shanghai Mental Health Center Shanghai Jiaotong University

Objective MECP2(Methyl-Cp G-binding protein 2) is a key protein for neurodevelopment with fun ctions in not only transcription regulation but also micro RNA processing. Mutations in MECP2 are associated with neurodevelopment disorders, including MECP2 duplication syndrome(MDS), aut ism spectrum disorders(ASD) and Rett syndrome. Our study is to investigate the functional chan ges of MECP2 mutations from Chinese ASD patients during neural stem cells/progenitor cells(N SC/NPC) differentiation. Method Target sequencing of MECP2 gene in in a Chinese ASD cohort with 288 patients and 369 controls. Five rare missense mutations in MECP2 that were identified. The molecular function of those mutant MECP2 were investigated in both mouse NPC and human glioblastoma cells. In ut ero electroporation was used to study the in vivo function of MECP2 mutants in mouse developin g brain. Result 1. Five rare missense mutations in MECP2 that were identified in six Chinese ASD patient s only but not in control samples. 2. Overexpressing those mutated Me CP2 caused reduced neurogenesis both in vitro and in vivo. 3. Mi R-197 was identified as downstream key molecule of those MECP2 to regulate NOTCH sign aling pathway. Compared to WT MECP2, MECP2 mutants can not up-regulate mi R-197.3. Overexpression of mi R-197 could clearly rescue the differentiation defects caused by Me CP2 mutants both in vitro and in vivo. Conclusion Here we identified a brain-enriched mi R-197 that is critical for Me CP2 promoted neur al stem cells/progenitor cells(NSC/NPC) differentiation through inhibition on Notch signaling. Tho se five new autisitc mutations in MECP2 we identified resulted in a failure of mi R-197 up-regulatio n. Importantly, overexpression of mi R-197 could clearly rescue the defects caused by Me CP2 mu tants both in vitro and in vivo. Our results highlight a potential therapeutic effect of mi R-197 for n eurodevelopment disorders including MDS and ASD.

关键词： ASD MiR-197 rescues the neurogenesis defects caused by autistic MECP2 mutation

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In-silico screening and molecular analysis of disease associated mutations on Cul4B

In-silico screening and molecular analysis of disease associ...

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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： Dou Hao Yu Qian Feng Yingjie Gong Yaoqin Institute of Genetics Shandong University

Objective Nowadays, the amounts of available gene sequencing data are growing rapidly. Comp utational methods were developed to interpret sequence variants and address their structural imp act on encoded proteins. CUL4 B gene located on X chromosome encodes Cul4 B protein. Cul4 B works as a scaffold to bind DDB1 and Rbx1, all of which form the CRL4 B E3 ligase and promote substrates ubiquitination in multiple signaling pathways. To date, the overexpression of CUL4 B g ene has been reported to be associated with many types of cancer. Variants in CUL4 B gene sequ ence were also found in numerous tumor tissues, including large intestine, stomach, breast, lung, liver and so on. Method Here, we used computational approaches to filter deleterious and pathogenic mutation in CUL4 B. Based on COSMIC and NCBI db SNP database, we analyzed hundreds of missense mut ations using Polyphen, SIFT, PANTHER and Mutation Taster server. 26% of variants are found to be damaging or deleterious. We mapped these mutations onto Cul4 B 3 D structural models includi ng native and neddylation states. Result We identified significant clustering of mutations in Cul4 B, which probably affects assembli ng CRL4 B E3 ligase complex. There are also some mutations, which might induce disruptions of proper protein folding. Interestingly, we found that C-terminus of Cul4 B(830-896 aa) is frequently mutated. This area is exposed in the native state but contacts E2 and co-E3 upon neddylation ac cording to 3 D models. For example, A835 E, R838 Q, I839 F, K841 N, and Y880 C might disrupt Cul4 B-E2 interaction. In addition, H848 Q, P862 T, D877 N might affect the neddylation of Cul4 B, thusgreatly reduce CRL4 B activity in facilitating substrate ubiquitination. Functional studies are requir ed to clarify whether these mutants have oncogenic characters. Conclusion Our study provided an efficient computational methodology to screen the cancer/dis ease associated mutations from large datasets and examine their m

关键词： CRL In-silico screening and molecular analysis of disease associated mutations on Cul4B

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A Splicing Mutation in VPS4B Causes Dentin Dysplasia Ⅰ

A Splicing Mutation in VPS4B Causes Dentin Dysplasia Ⅰ

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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： Xiong Fu Yang Qi Chen Dong Chen Danna Liu Cuixian Liu Yanhui Yu Qiuxia Ye Yuhua Tian Zhihui Shan Xuan Zhang Leitao Wei Xiaofeng Zhou Wanjun Li Dongri Zhang Wenqing Xu Xiangmin Department of Medical Genetics School of Basic Medical Sciences Southern Medical University School of Stomatology Zhengzhou University

Objective Dentin dysplasia Ⅰ(DDI) is a genetically heterogeneous autosomal-dominant disorder characterized by rootless teeth with abnormal pulpal morphology, the etiology of which presents as genetically heterogeneous and the molecular basis of which is still unclear. Method Using a cohort of a large Chinese family with 10 DDI patients, we mapped the candidate region for DDI by combining use of whole genome-wide SNP array and STR linkage analysis. And then, we analyzed the molecular mechnisem on the pathogenic gene for DDI in vivo and in vitro. Result We mapped to a 9.63 Mb candidate region for DDI on chromosome 18 q21.2-q21.33. We then identified a mutation IVS7+46 C>G which resulted in a novel donor splice site in intron 7 of the VPS4 B gene with co-segregation of all 10 affected individuals in this family. Theaberrant transcripts encompassing a new insert of 45-bp in size were detected in gingival cells from affected individuals. Protein structure prediction showed that a 15-amino acid insertion altered the ATP-binding cassette of VPS4 B. The mutation resulted in significantly reduced expression of m RNA and protein and altered subcellular localization of VPS4 B, indicating a loss of function of VPS4 B. Using human gingival fibroblasts, the VPS4 B gene was found to act as an upstream transducer linked to Wnt/beta-catenin signaling and regulating odontogenesis. Furthermore, knock-down of vps4 b in zebrafish recapitulated the reduction of tooth size and absence of teeth similar to the tooth phenotype exhibited in DDI index cases, and the zebrafish mutant phenotype could be partially rescued by wild-type human VPS4 B m RNA. We also observed that vps4 b depletion in the zebrafish negatively regulates the expression of some major genes involved in odontogenesis. Conclusion The study identifies VPS4 B as a disease-causing gene for DDI, which is one of the important contributors to tooth formation through the Wnt/beta-catenin signaling pathway.

关键词： A Splicing Mutation in VPS4B Causes Dentin Dysplasia VPS

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The association study of mutations in GLI family and Congenital Heart Diseases

The association study of mutations in GLI family and Congeni...

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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： Peng Rui Li Binbin Zheng Yufang Wang Hongyan Obstetrics and Gynecology Hospital of Fudan University School of Life Sciences Fudan University

Objective Congenital heart disease(CHD) is one of the world's major birth defects. The prevalen ce of CHD in China is highest among all birth defects over the past five years with an increasing i ncidence. Studies in model organisms have shown that morphogen molecules, such as Hedgeho g(Hh) family members, play important role during heart development and mutations in those mol ecules could cause abnormality in heart. Gli is a key molecule of Hh signaling pathways. The fami ly has three homologues, including Gli1, Gli2 and Gli3. Gli1 and Gli2 mainly function as activating molecule while Gli3 is the major downstream inhibitor of Hh signaling pathway. This study aims to identify mutations in GLI family in the pathogenesis of CHD. Method In this study, we have used next generation sequencing to screen mutations from 417 ca ses of CHD patients and 213 normal controls from Shandong area. Only case-specific rare misse nse mutations in GLIs were tested by Dual-luciferase Reporter Assay for their activities in the Hed gehog signaling pathway. Result We have analysised the data of the second generation sequencing, and filtered out the ca se-specific rare missense mutations of GLI1, GLI2 and GLI3. There are six case-specific rare mu ations in GLI1, ten in GLI2, and four in GLI3. The results of Dual-luciferase Reporter Assays show ed that three GLI1 mutations had significantly different activities compared to wildtype GLI1. GLI1 G274 C could significantly activate the Hh signaling pathway(p < 0.01). GLI1 R293 H could obvio usly inhibit the Hh signaling pathway(p < 0.01). Nonsense mutation GLI1 L481 X had completely l ost its activity in Hh signaling pathway. There is no mutation of GLI2 and GLI3 has any significant changes in their function in luciferase assay. Conclusion We concluded that the mutations G274 C, R293 H, L481 X of GLI1 may be the risk fac tors of CHD. The functions of other mutations need further validation.

关键词： GLI The association study of mutations in GLI family and Congenital Heart Diseases

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Novel-compound heterozygous mutations in the TTI2 gene cause syndromic-intellectual disability in a Chinese family

Novel-compound heterozygous mutations in the TTI2 gene cause...

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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： Han Shirui Wang Rongrong Liu Hongyan Zhang Xue The Research Center for Medical Genomics Key Laboratory of Medical Cell Biology Chinese Ministry of Ed ucation College of Basic Medical Science China Medical University Department of Medical Genetics and National Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences School of Basic Medicine Peking Union Medical College People's Hospital of Zhengzhou University Henan Provincial People's Hospital

Objective Background Tel2-interacting proteins 2（TTI2）interact with Tel2-interacting proteins 1（TTI1） and telomere maintenance 2（TELO2） to form the Triple T complex, which acts as a co-ch aperone of phosphoinositide-3-kinase-related protein kinase. Two missense mutations in TTI2 ha ve been reported to be associate with non-syndromic or syndromic intellectual disability. Objectives To identify the causitive mutation in a Chinese family with syndromic intellectual disab ility. Method Methods Here,we describe a Chinese family with a recessive inheritance pattern of intell ectual disability characterized by cognitive impairment, microcephaly, aggressive, behavioral trou bles and skeletal anomalies. We performed whole-exomes sequencing on two-affected patients. Candidate variants were validated by Sanger sequencing. Quantitative real-time PCR was emplo yed to evaluate the effect of the frameshift mutation on gene expression. Cellular localization of t wo TTI2 isoforms were examined using immunostaing. Result Results We identified compound heterozygous-mutations（c.94244 del TCTins CTGTGC TTCCATTCCTTCCTCCTAG[p.C314 Cfs*9]and c.1100 C>T [p.P367 L]） in TTI2. Maternal novel fra meshift mutation resulted in premature termination codon and nonsense-mediate m RNA decay. P aternal reported c.1100 C>T mutation changed the highly conserved proline to leucine that locate d in the DUF2454 domain, and maybe disrupt essential for stability and function of the Triple T complex. Additionally,we found a TTI2 short isoform, which is wildly expressed and located both in cytoplasm and nucleus. Conclusion Conclusion These results suggest that compound heterozygous mutations in TTI2 might cause syndromic intellectual disability in our family. Our case expands the genetic causes o f intellectual disability in Chinese population.

关键词： TTI Novel-compound heterozygous mutations in the TTI2 gene cause syndromic-intellectual disability in a Chinese family

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Neuron-specific Cul4b knockout mice recapture the cognitive impairment phenotype in human X-linked mental retardation patients

Neuron-specific Cul4b knockout mice recapture the cognitive ...

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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： Jiang Baichun Zhao Wei Zhang Shuqian Hu Huili Shao Changshun Gong Yaoqin The Key Laboratory of Experimental Teratology Ministry of Education and Department of Medical GeneticsShandong University School of Medicine

Objective Mutations in CUL4 B gene are one of the most common causes of X-linked mental retardation. Although the E3 ubiquitin ligase complex formed by CUL4 B(CRL4 B) is known to target substrates for proteolysis or to coordinate with PRC2 complex in promoting H3 K27 trimethylation and transcriptional repression, how CUL4 B dysfunction causes mental retardation remains unclear. To gain insights into the mechanisms by which CUL4 B regulates neural development, we employed three lines of conditional knockout mice and observed the learning and memory abilities of these mice. Method We crossed Cul4 b floxed mice with Nestin-Cre transgenic mice to generate nervous system specific Cul4 b conditional knock-out mice(referred to as Cul4 bNestin-Cre hereinafter). We further crossed Cul4 b floxed mice to Nse-Cre or Gfap-Cre transgenic mice to generate neuronspecific Cul4 b knockout mice(Cul4 bNse-Cre) or astrocyte-specific Cul4 b knockout mice(Cul4 bGfapCre), respectively. Result Here we report that mice lacking expression of Cul4 b in nervous system(Cul4 bNestin-Cre) are impaired in spatial learning and memory. To further determine the cell type responsible for the impaired spatial learning and memory in Cul4 bNestin-Cre mice, we characterized two lines of mice that lack expression of Cul4 b in neurons(Cul4 bNse-Cre) and in astrocytes(Cul4 bGfap-Cre), respectively. We observed that learning and memory were impaired in Cul4 bNse-Cre mice, but not in the Cul4 bGfap-Cre line, suggesting that the impairment in spatial learning and memory in Cul4 bNestin-Cre mice was due to the lack of Cul4 b in neurons but not in astrocytes. Conclusion Together, our results demonstrate a critical role of CUL4 B in neuronal function and provide a potential model for human X-linked mental retardation.

关键词： Cre Neuron-specific Cul4b knockout mice recapture the cognitive impairment phenotype in human X-linked mental retardation patients

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A preliminary therapeutic effect of a new anti-TNF-α drug on AI mouse model

A preliminary therapeutic effect of a new anti-TNF-α drug o...

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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 Jun Wang Lianqing Huang Yingzhi Liu Keqiang Zhu Lei Liu Yaping Zhang Xue Department of Medical Genetics School of Basic Medicine Peking Union Medical College Department of Pharmacology School of Basic Medicine Peking Union Medical College

Objective To investigate whether a new developed anti-TNF-α drug(provided by department of Pharmacology in Peking Union Medical College) has effect on relieving the symptom of Ncstnco/co;K5-Cre mice. Method Ncstnco/co;K5-Cre mice were divided into an experimental group and a control group. Mi ce in two groups were treated with a new anti-TNF-α drug and PEG, respectively, by means of int ragastric administration once a day from weaning to 45 th day with a dose of 0.1 ml/10 g. The back skin tissue from each treated mouse was then collected on the 45 th day. HE staining, real-time P CR and western blotting experiments on these skin samples were conducted to detect the chang es of inflammatory cytokines. Result We totally collected 9 littermates, 5 were treated by drug and 4 were treated by PEG, resp ectively. We observed the phenotypes of the experimental mice became milder than that of the co ntrol mice. And then we detected the decreased expression of inflammatory cytokines of TNF-α,I L23 and also the newly identified cytokine IL1 F6, in experimental mice. The result was confirmed by HE staining, real-time PCR and western blotting. Conclusion Previously, we have successfully established a keratinocyte-specific null mutant of N cstn(Ncstnco/co;K5-Cre) in mice using the Cre-lox P system, exhibiting AI-like phenotypes includ ing progressive keratinization and atrophy in hair follicles. In Human, AI can be treated by anti-TN F-α drug but the effect is limited and varies among treated patients. Nevertheless, in mice, we ha ve identified that both the symptom of keratosis and inflammation were relieved obviously after th e treatment of a new anti-TNF-α drug in littermates mice. However, consistent results from more t reated mice are needed to further support this preliminary result. Meanwhile, the trend that IL1 F6, our previously identified inflammatory factor that may initiate the immune response in AI patients, showed the response to the drug, may add a line of evidence

关键词： drug on AI mouse model A preliminary therapeutic effect of a new anti-TNF

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