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Genetic testing of inherited cardiomyopathy by next generation semiconductor sequencing technologies

Genetic testing of inherited cardiomyopathy by next generati...

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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： Lu Chaoxia Wu Wei Liu Fang Yang Kunqi Li Jiacheng Zhang Shuyang Zhang Xue Mc Kusick-Zhang Center for Genetic Medicine Institute of Basic Medical Sciences Chinese Academy of Medical Science & Peking Union Medical College Department of Cardiology Peking Union Medical College Hospital Chinese Academy of Medical Science &Peking Union Medical College Department of Cardiology Fuwai Hospital National Center for Cardiovascular Disease Chinese Academy of Medical Sciences & Peking Union Medical College

Objective Inherited cardiomyopathy(IC) is the most common genetic heterogeneity and clinical h eterogeneity cardiac disease. It also causes a significant proportion of sudden cardiac deaths and heart failure in young. The purpose of this study was to investigate cases of primary cardiomyop athy for potential disease-causing mutations in 64 genes reported to be associated with IC. Method A total of 110 independent cases and families diagnosed with primary cardiomyopathy in cluding hypertrophic cardiomyopathy(n=34), dilated cardiomyopathy(n=22), restrictive cardiomy opathy(n=13), arrhythmogenic right ventricular cardiomyopathy(n=7), left ventricular non-compa ction(n=9), and phenotype overlap or undefined(n=25) were collected after informed consent. A custom designed Ampli Seq panel, including 64 genes, were screened by Ion Torrent PGM Seque ncing platform. The most likely disease-causing variants were validated by Sanger sequencing. Result As a result, 62 variants in 61 patients(55.5%) had been found with likely functional effects based on conservation, computational prediction, allele-frequency and supportive literature. In th ese variants, 22 are reported to be damaging mutations in the Human Gene Mutation Database, 38 are novel and predicted to be potential or possible pathogenic in silico. The distribution of mut ations among the cardiomyopathy genes were not equal in different type of cardiomyopathy. TTN truncating mutations is not so prevalent in our DCM cases(13%). Conclusion This study provides a comprehensive characterization of the genetic aberrations in C hinese primary cardiomyopathy patients and also highlights the diagnostic value of NGS analysis in IC.

关键词： Genetic testing of inherited cardiomyopathy by next generation semiconductor sequencing technologies

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A novel FOXC2 frameshift mutation found in a Chinese family with Lymphedema-Distichiasis

A novel FOXC2 frameshift mutation found in a Chinese family ...

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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： Ye Zimeng Gong Bo Yang Zhenglin Shi Yi Sichuan Provincial Key Laboratory for Disease Gene Study Hospital of University of Electronic Science and Tec hnology of China & Sichuan Provincial People's Hospital

Objective Lymphedema-Distichiasis(LD, OMIM 153400), a rare autosomal dominant disorder, is mainly characterised by lower limbs lymphedema and distichiasis(referred to as double rows of e yelashes at the rim of the eyelids). Congenial distichiasis is the most conspicuous manifestation o f LD. Affected individuals may also suffer from other ocular complications, including corneal irritati on, recurrent conjunctivitis, photophobia, exotropia, ptosis, congenital ectropion, and congenital c ataracts. According to previous studies, the FOXC2 protein is indispensable for the development of the vascular and lymphatic systems, mutations in FOXC2 could lead to LD. The purpose of the present study was to report the clinical features of a Chinese family with LD, and to screen for no vel genetic mutations in FOXC2. Method A three-generation family from China was recruited in this study. All of the 9 family memb ers underwent complete and comprehensive physical examinations. Among them, 3 members we re diagnosed with LD. Genomic DNA was collected from peripheral blood of all the participants. T he entire coding sequence of FOXC2 was amplified by polymerase chain reaction(PCR), followe d by direct DNA sequencing. We validated the absence of the novel mutation in the normal memb ers of the family and in other 300 ethnically matched normal *** A novel frameshift mutation(c.936 dup CGCCGCC;***313 Argfs X464) in exon 3 of FOX C2 was identified in all the affected family members, but not in the normal family members or the 300 ethnically matched controls. Bioinformatic analysis suggested this frameshift mutation resulte d in premature stop codon thus produced truncated FOXC2 protein. Conclusion FOXC2 protein is characterized by a conserved DNA-binding domain known as the f orehead domain(FHD). This frameshift mutation could lead to truncated FOXC2 protein, which m ay subsequently impair the DNA-binding of FHD, and compromise the transcriptional activation a bility of the

关键词： DNA A novel FOXC2 frameshift mutation found in a Chinese family with Lymphedema-Distichiasis

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A comprehensive protocol for preimplantation genetic diagnosis(PGD) for patients with hemophilia B by Comparition of Karyomapping test and the conventional PCR methods including DNA direct suquecing and STRs analysis

A comprehensive protocol for preimplantation genetic diagnos...

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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： Lin Xiaoying Wang Jing Xu Yanwen Jiang Weiying Department of Medical Genetics Medical School Sun Yat-Sen University Reproductive center The First Affiliated Hospital Sun Yat-Sen University

Objective Hemophilia B(HB) is the second most common form of hemophilia after hemophilia A. It is estimated that one in 30,000 live male births of all populations suffers from the Hemophilia B and about 30-45% of patients with it have a severe disease. Initially many clinics offer Preimplantation Genetic Diagnosis(PGD) for the patients with HB by gender selection using fluorescence in situ hybridization but only female embryos can be transferred. Subsequently the use of indirect linkage analysis such as short tandem repeats(STRs) analysis combining direct genotyping make it possible for the couples to have a healthy child of either gender but it also show certain limitations by patient-tailored which turn out to be labor intensive,time consuming and costly to develop. In this study, we aim to explore a comprehensive protocol for preimplantation genetic diagnosis for patients with hemophilia B by karyomapping tests comparing with the conventional PCR methods including DNA sequencing and STRs analysis. Method we used karyomapping test on each sample in this HB case for PGD,and the disease status of the embryo was analyzed blind, then make a concordance analysis with the original diagnosis which is based on direct mutation detection with DNA sequencing and STRs analysis. Result In this PGD case, all of the eleven embryos had been unambiguously detected and the results of two methods(Direct mutation detection with DNA sequencing combined STR analysis and Karyomapping test)were concordant with each other and confirmed the diagnosis for each embryo. Through this PGD, there were four embryos genetically suitable for transfer. And now the patient which in this PGD case is pregnant is prepared for prenatal diagnosis. Conclusion By comparing with the advantages and disadvantages of the two methods, Karyomapping test combined direct mutation detection with DNA sequencing is recommended to be a more comprehensive protocol for PGD for Hemophilia B. In addition,embryo biopsy shou

关键词： PGD for patients with hemophilia B by Comparition of Karyomapping test and the conventional PCR methods including DNA direct suqueci A comprehensive protocol for preimplantation genetic diagnosis DNA

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Genome-wide screening identifies oncofetal long noncoding RNA Ptn promoting proliferation of hepatocellular carcinoma cells by regulating the receptor of Ptn

Genome-wide screening identifies oncofetal long noncoding RN...

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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 fang liu yan huang jinfeng cai hui yuan jihang yang fu sun shuhan ma liye department of medical genetics the second military medical university The First Department of General Surgery Changhai Hospital Second Military Medical University

Objective In this study, we searched for the oncofetal lnc RNAs molecular used for diagnosis and treatment of hepatocellular carcinoma by genome-wide screening and functional study of lnc RNAs. Method We established the DEN-induced mouse liver cancer model and examined the expression profiles of lnc RNAs in fetal livers, adult livers and liver cancer tissues of male C57 BL/6 mice using tissue microarray. The oncofetal lnc RNAs were screened and the lnc-Ptn was identified as oncofetal lnc RNA by real-time quantitative polymerase chain reaction(q RTPCR). Moreover, the function of stably over-expressed lnc-Ptn in Hepa1-6 cells was explored in vitro and in vivo. RNA pull-down assay and mass spectrometry were performed using the biotinlabeled probe of lnc-Ptn to elucidate its mechanism of action. Result Lnc-Ptn, an oncofetal gene, was highly expressed in mouse fetal liver and liver cancer tissues but silenced in adult liver samples. Lnc-Ptn promoted proliferation of mouse liver cancer cells in vitro and in vivo. Mechanistically, lnc-Ptn could bind to Hu R, leading to competitive inhibition of the connection between mi R-96 and Hu R, then promoted the expression of Anaplastic lymphoma kinase(Alk) protein, which is a receptor target of Pleiotrophin(Ptn). Conclusion Lnc-Ptn promoted proliferation of hepatocellular carcinoma cells by enhancing the function of Ptn via managing Hu R/mi R-96/Alk pathway and ppleiotrophin-Alk axis. Generally speaking, in this study, we identified a new oncofetal lnc RNA and found a new mechanism of action of lnc RNAs, that is, a lnc RNA exerted its function by regulating the receptor of its adjacent protein-coding gene.

关键词： RNA Genome-wide screening identifies oncofetal long noncoding RNA Ptn promoting proliferation of hepatocellular carcinoma cells by regulating the receptor of Ptn

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Novel promoter polymorphisms in HTR2A gene are associated with schizophrenia in Chinese

Novel promoter polymorphisms in HTR2A gene are associated wi...

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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： sun qianqian Huang Xiaoye Niu Weibo Yu Tao Chen Shiqing Li Xingwang Wu Xi Shi Lei Cao Yanfei Zhang Rui Bi Yan Xu Fei Yang Fengping Wang Lu Li Weidong Xu Yifeng He Lin 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 Institutes of Biomedical Sciences Fudan University

Objective Schizophrenia is a common psychiatric disorder involved with various genetic and envi ronmental risk factors. Previous studies suggested HTR2 A gene(5-hydroxytryptamine/serotonin receptor2 A) and its nearby polymorphisms were associated with schizophrenic phenotypes and a ntipsychotic efficacies. Method The current study reexamined the association between HTR2 A gene and schizophrenia i n the Han Chinese population according to analyzing its seven intronic or promoter polymorphism s(rs7322347, rs1923882, rs643627, rs6311, rs1328685, rs731245, rs732821). Genotyping was routinely performed for these polymorphisms in 893 sporadic schizophrenics and 611 ethnically m atched controls. Result Three novel promoter polymorphisms were nominally associated with schizophrenia in all ele frequencies(rs1328685:P=0.0415;rs731245: P=0.0497;rs732821: P=0.0382) or genotype fr equencies(rs1328685: P=0.0221). We also found the existence of a strong LD(linkage disequilibrium) block among four consecutive polymorphisms(rs6311, rs1328685, rs731245, rs732821), but no obvious haplotype associated with schizophrenia. Conclusion We found three novel promoter polymorphisms were nominally associated with schiz ophrenia in Chinese Han population.

关键词： HTR Novel promoter polymorphisms in HTR2A gene are associated with schizophrenia in Chinese

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Negative epigenetic regulation of BCL11A gene expression through the 5'UTR and 3'UTR

Negative epigenetic regulation of BCL11A gene expression thr...

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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 Yihong Liu Dun Li Zhiming Ye Yuhua Zhang Xinhua Xu Xiangmin Department of Medical Genetics School of Basic Medical Science Southern Medical University Department of Hematology 303rd Hospital of the People's Liberation Army

Objective BCL11 A has been described as a major suppressor of Hb F. Despite the crucial role of BCL11 A on Hb F expression, little is known about its regulatory details on the untranslated region s(UTRs). In this study, we investigated the correlation of methylation status of BCL11 A promoter with its expression and whether mi RNAs target at BCL11 A 3‘UTR. Method We detected the methylation status of BCL11 A promoter among a panel of human tissue s by bisulfite-sanger sequencing. The expression level of BCL11 A of different tissues was analyz ed by real-time quantitative RT-PCR. Dual-luciferase reporter assay and EMSA were performed t o validate the role of Cp G site flanking binding motif. To verify mi R-425 down-regulating the expre ssion of BCL11 A, we performed dual-luciferase reporter assay and western blot. Result Among a panel of human tissues, tremendous diversity of the methylation states in BCL11 A promoters were observed, which is negatively correlated with gene expression. We also identifi ed the exact binding site of GATA1 on BCL11 A promoter and further validated Cp G site flanking it s binding motif impairing the binding affinity. With regard to the 3‘UTR of BCL11 A, we identified m i R-425 as a novel mi RNA who is capable of down-regulating the expression level of BCL11 A in vit ro. Conclusion Hypermethylation of BCL11 A promoter and mi R-425 targeting at BCL11 A 3‘UTR sile nce gene expression. These findings may provide cues on strategies to regulate BCL11 A express ion and ultimately ameliorate the clinical severity of β-thalassemia patients.

关键词： Negative epigenetic regulation of BCL11A gene expression through the 5'UTR and 3'UTR

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The Combination of CRISPR/Cas9 and iPSC Technologies in the Gene Therapy of Human β-thalassemia in Mice

The Combination of CRISPR/Cas9 and iPSC Technologies in the ...

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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： ou zhanhui sun xiaofang The Third Affiliated Hospital of Guangzhou Medical University

Objective we first aimed to determine whether CRISPR/Cas9-corrected β-thalassemia(homozyg ous 41/42 deletion) i PSCs can differentiate into HSCs and whether those HSCs can survive, diffe rentiate, and produce HBB in NOD-scid-IL2 Rg?/?(NSI) mice. Secondly, we aimed to study the in cidents of tumor formation when CRISPR/Cas9-corrected i PSC-driven HSCs are implanted in NS I mice. Method Feeder-free culture of h ESCs and i PSCs, RT-PCR, Karyotype analysis, STR analysis an d DNA sequencing analysis, Immunofluorescent staining, Hematopoietic differentiation, Pathologi cal examination, Flow cytometry assay and cells sorting, Western blot analysis Result we reported that correction of β-thalassemia mutations in patient-specific i PSCs using the CRISPR/Cas9 tool promotes hematopoietic differentiation in vivo. CRISPR/Cas9-corrected i PSCderived hematopoietic stem cells(HSCs) were injected into sublethally-irradiated NOD-scid-IL2 R g?/?(NSI) mice. HBB expression was observed in these HSCs after hematopoietic differentiation in the NSI mice. Importantly, no tumor was found in the livers, lungs, kidneys, or bone marrow at 10 weeks in the NSI mice after implantation with these HSCs. Collectively, our findings demonstr ated that CRISPR/Cas9 successfully corrects β-thalassemia mutations in patient-specific i PSCs. These CRISPR/Cas9-corrected i PSC-derived HSCs express normal HBB in mice without tumorig enic potential Conclusion In summary, we demonstrated that HSCs from the correction of homozygous mutati on of β-thalassemia i PSCs could survive, differentiate into RBCs, and produce β-globin after hem atopoietic differentiation in vivo. There were no observations of tumor formation in NSI mice after ci PSC transplantation. Our results highlight a safe gene therapy strategy of combining i PSCs and CRISPR/Cas9 technology to treat β-thalassemia.

关键词： The Combination of CRISPR/Cas9 and iPSC Technologies in the Gene Therapy of Human thalassemia in Mice CRISPR

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PPP2R2A-containing PP2A complex negatively regulates HIPPO pathway by dephosphorylating AMOTL2 at Ser-217 in breast cancer cells

PPP2R2A-containing PP2A complex negatively regulates HIPPO p...

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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： Xu Fei Li XiaoRong Jiang Nan Du SiChen Ou HuaYuan Zhang Jin Ma Duan Key Laboratory of Metabolism and Molecular Medicine Ministry of Education Department of Biochemistry and Molecular Biology School of Basic Medical Sciences Fudan University Institute of Biomedical Sciences Collaborative Innovation Center of Genetics and Development School of Basic Medical Sciences Fudan University

Objective The HIPPO signaling pathway is a conserved tumor suppressor signaling pathway. Pr otein phosphatase 2 A(PP2 A) complex includes a family of protein serine/threonine phosphatase s and their specificity were determined by combining different regulatory B subunits. Method In this research, the PP2 A regulatory B subunit PPP2 R2 A was identified to negatively re gulate HIPPO pathway in breast cancer cells, whose knockdown promoted the YAP phosphorylati on and suppressed the cell proliferation and migration in breast cancer cells. Result The SBP-His-PPP2 R2 A tandem affinity purification(TAP) and LC/MS/MS mass spectrom etry analysis showed that AMOTL2 was a potential partner of PPP2 R2 A breast cancer cells. Furt her investigation revealed that PPP2 R2 A dephosphorylated the AMOTL2 Ser-217 phosphorylatio n, and the AMOTL2 phosphorylation also activated the YAP phosphorylation and suppressed the breast cancer cell proliferation and migration. The activation of YAP phosphorylation by the PPP2 R2 A knockdown was blocked by the AMOTL2 knockdown and upregulation of YAP rescued the s uppressive effects of PPP2 R2 A knockdown on the breast cancer cell proliferation and migration. Conclusion Our results here suggest that PPP2 R2 A-containing PP2 A complex negatively regula tes HIPPO pathway by dephosphorylating AMOTL2 at Ser-217 in breast cancer cells.

关键词： PPP2R2A-containing PP2A complex negatively regulates HIPPO pathway by dephosphorylating AMOTL2 at Ser-217 in breast cancer cells

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Genetic study on early onset high myopia: A story from WES on 298 probands

Genetic study on early onset high myopia: A story from WES 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： Zhang Qingjiong State Key Laboratory of Ophthalmology Zhongshan Ophthalmic Center Sun Yat-sen University

Objective High myopia are the most common causes of irreversible blindness due to its associat ed complications. Genetic factors have been shown to play an important role in the development of high myopia. Both Mendelian and complex traits have been suggested but many genetic studie s on high myopia did not differentiate Mendelian trait from complex trait. Based on our series stud ies on high myopia in the last two decades, most early onset high myopia should be considered t o be transmitted as Mendelian trait while most high myopia in teenage students associated with e xcessive near work are more likely to be complex trait. This study aims to elucidate the genetic ba sis of Mendelian high myopia based on analysis of early onset high myopia. Method Whole exome analysis was conducted on genomic DNA from 298 probands with early on set high myopia. Variations in genes known to associated with high myopia or with other forms of retinal diseases were analyzed. Comparative variation analysis was performed in order to search for novel mutations in genes not associated with any know diseases. Result Mutations in genes suggested to be associated with high myopia were only detected in a f ew families. Comprehensive analysis of genes know to be responsible for other retinal diseases i dentified potential pathogenic mutations in 34 of 234 genes in 71 of 298(23.4%) probands. Comp arative analysis between whole exome sequencing data from the 298 probands and those from s everal cohorts with other diseases not only revealed several novel candidate genes for Mendelianhigh myopia but also suggested a few unlikely causative genes reported to be responsible for hig h myopia and other retinal diseases. Conclusion Our findings provide evidence to support that early onset high myopia is likely trans mitted as Mendelian trait. About one fourth of such high myopia might be the most significant or e arliest sign of other hereditary ocular or systemic diseases. Functional studies or generati

关键词： A story from WES on 298 probands Genetic study on early onset high myopia WES

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A novel OCRL mutation causes Lowe syndrome in a Chinese family with two brothers

A novel OCRL mutation causes Lowe syndrome in a Chinese fami...

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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： Zhang Xuelian Li Zhong Xu Huilin Huang Huajie Ma Di Chen Danna Chen Jianfan Xu Xiangmin Xiong Fu Department of Medical Genetics School of Basic Medical Sciences South Medical University Department of Neurology The Sixth Affiliated Hospital Sun Yat-sen University

Objective Lowe syndrome(oculo-cerebro-renal syndrome) is a rare X-linked recessive hereditary disease seen in approximately 1/200 000-1/500 000 births. In this study, we investigated the OC RL gene mutation in a Chinese Han family with Lowe syndrome and study the pathogenesis of th e mutation with OCRL gene. Method B ultrasound was used for clinical diagnosis. Peripheral venous blood was taken from th e family members. Polymerase chain reaction(PCR) was used for amplifying the OCRL gene and then analyzed with Sanger sequencing. The novel mutation of the pathogenesis was analyzed by bioinformatics, real-time PCR, subcellular localization and Western blot. Result Proband and his brother were diagnosed with Lowe syndrome. The Sanger sequencing s howed a novel mutation, c.1383 del A, a deletion mutation, in exon 14 of the OCRL gene. Their parents had no obvious clinical symptoms, only the mother carried the mutation site. The frameshift mutation generated a truncated protein that was expressed in transfected Human embryonic kidn ey(HEK) 293 T cells. Subcellular localization experiments showed that GFP-tagged of wild-type a nd mutant OCRL protein were located in the cytoplasm of HEK-293 T cells. Western blot analyze d that the protein expression of Co-transfection in HEK293 T cells with mutant expression plasmid s was significantly lower than wild type protein. Conclusion Our study suggests that the novel frameshift mutation(c.1383 del A) of OCRL gene le ads to a truncated protein and involves in Lowe syndrome pathogenesis with haploinsufficiency. T hese findings expand the mutation spectrum of OCRL gene, and provide theoretical basis for the treatment and genetic counseling of the Lowe syndrome family.

关键词： A novel OCRL mutation causes Lowe syndrome in a Chinese family with two brothers

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