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Genetic and clinical findings in a Chinese family with PROM1-associated Stargardt disease: Case report and review of the literature

Genetic and clinical findings in a Chinese family with PROM1...

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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： Huang Li Xiao Xueshan Li Shiqiang Jia Xiaoyun Wang Panfeng Sun Wenmin Guo Xiangming Zhang Qingjiong 中山大学中山眼科中心眼科学国家重点实验室

Objective Stargardt disease(STGD) is the most common form of inherited juvenile macular dege neration. In this study, we try to explore the molecular genetics of STGD in a Chinese family and t o broaden the knowledge of PROM1 mutations and the associated phenotypes. Method Whole exome sequencing was conducted in four affected family members and clinical da ta including fundus photographs and Fundus Fluorescein Angiography were performed. Result Exome sequencing revealed a recurrent heterozygous mutation c.1117 C>T(p.R373 C) in PROM1 gene was the causative mutation of the family. After summarizing all the reported mutatio ns of PROM1, 31 pathogenic mutations in total were reported, including nine splicing, eight deleti on, seven nonsense, four missense and three insertion mutations. Mutation p.R373 C was not onl y the most common mutation, but also the only mutation which had an evidence of causing disea se in a single heterozygous state, all the others were homozygous or compound heterozygous. Al though p.R373 C was reported in different phenotypes, bull‘s eye maculopathy is the common sign. Conclusion We detected a p.R373 C mutation in PROM1 gene, and the mini-review of genotype and phenotype of PROM1 gene will benefit to the interpretation of the pathogenicity of PROM1 va riants.

关键词： Case report and review of the literature Genetic and clinical findings in a Chinese family with PROM1-associated Stargardt disease

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Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Chinese Family by Targeted Exome Sequencing

Identification and Clinical Implications of Novel MYO15A Mut...

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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： Yan Tizhen Tang Ning Li Zhetao Li Wugao Tang Xiangrong Wang Lin Yang Yan Huang Jiwei Zheng Pei Cai Ren Zeng Dingyuan Key Laboratory of birth defects prevention and control Department of Medical Genetics Liuzhou Municipal Maternity and Child Healthcare Hospital Center of Hearing Liuzhou Municipal Maternity and Child Healthcare Hospital

Objective Autosomal recessive nonsyndromic hearing loss(ARNSHL) is a genetically heterogen eous sensorineural disorder, generally manifested with prelingual hearing loss and absence of ot her clinical manifestations. The aim of this study is to identify the pathogenic gene in a four-gener ation consanguineous Chinese family with ARNSHL. Method Two novel frame-shift mutations, c.5964+3 G>A and c.7395+1 G>A, in the myoxin XVa ge ne(MYO15 A) was identified by exome sequencing and Sanger sequencing. The compound heterozygous MYO15 A c.5964+3 G>A and c.7395+1 G>A variants co-segregated with the phenotypes in the ARNSHL family and was absent in one hund red normal controls. Result The variant was predicted to interfere with the formation of the Myosin XVa-whirlin-Eps8 c omplex at the tip of stereocilia, which is indispensable for stereocilia elongation. Our data suggest that the compound heterozygous MYO15 A c.5964+3 G>A and c.7395+1 G>A variants might be th e pathogenic mutation, and exome sequencing is a powerful molecular diagnostic strategy for AR NSHL, an extremely heterogeneous disorder. Conclusion Our findings extend the mutation spectrum of the MYO15 A gene and have important implications for genetic counseling for the family.

关键词： MYO Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Chinese Family by Targeted Exome Sequencing

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Whole-exome sequencing identifies two novel MARVELD2 frame-shift mutations as a cause of autosomal recessive nonsyndromic hearing loss in a Chinese family

Whole-exome sequencing identifies two novel MARVELD2 frame-s...

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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： Yan Tizhen Cai Ren Tang Ning Li Wugao Li Zhetao Tang Xiangrong Luo Shiqiang Yang Yan Li Jingwen Wang Lin Zeng Dingyuan Key Laboratory of birth defects prevention and control Department of Medical Genetics Liuzhou Municipal Maternity and Child Healthcare Hospital Center of Hearing Liuzhou Municipal Maternity and Child Healthcare Hospital

Objective The genetic heterogeneity of hearing loss makes genetic diagnosis expensive and tim e consuming using available methods. Whole-exome sequencing has recently been introduced a s an alternative approach to identifying causative mutations in Mendelian disorders. Method To identify the hidden mutations that cause autosomal recessive nonsyndromic hearing l oss(ARNSHL), we performed whole-exome sequencing of a Chinese family with ARNSHL who w ere negative for GJB2 or SLC26 A4 mutations. Result We found two novel compound heterozygous frame-shift mutations, c.1360 del T and c.1507 del A, of MARVELD2 in the family with ARNSHL. Conclusion This is the first report of MARVELD2 frame-shift mutations in a Chinese population. We suggest that close attention should be paid to this gene when performing genetic testing of pa tients with hearing loss in China. The present results also indicate that whole-exome sequencing i s a valuable method for comprehensive medical diagnosis of a genetically heterogeneous recessi ve disease, especially in small-sized families.

关键词： frame Whole-exome sequencing identifies two novel MARVELD2 frame-shift mutations as a cause of autosomal recessive nonsyndromic hearing loss in a Chinese family

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The Correlation between G6PD Deficiency and Malaria Infection Rates: Meta-analysis Study

The Correlation between G6PD Deficiency and Malaria Infectio...

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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 Xiao dan Zhang Zhi qiang Jiang Wei ying Liu Li Guangzhou women and children's medical center Department of Medical Genetics Zhongshan Medical College Sun Yat-Sen University

Objective The aim of the present study was to perform a meta-analysis to investigate whether G6 PD-deficiency decreases the risk of malaria infection. Method Keywords "glucose 6-phosphate-dehydrogenase or G6 PD, Plasmodium or Malaria, Infec tion Rates" were searched in different databases(Pub Med, Web of Science). Moreover, referenc e list of the published studies were examined to increase sensitivity and to select more studies. Af ter studying titles and abstracts of retrieved articles, excluding the repeated and unrelated ones, e valuating quality of articles were selected. Data was analyzed using Stata12.1 software. Result After performing systematic review, 9 papers were entered this meta-analysis and 3758 s ubjects were examined concerning the correlation between G6 PD deficiency and malaria infectio n. After performing a subgroup analysis, 7 papers were finally made fix effect model(I2=15.5%, C ochran‘s Q-tests: P=0.311>0.05) to compare the risk of malaria infection between G6 PD deficient patients and G6 PD-normal controls. The results were statistically significant.(RR=0.734, 95% CI: 0.638–0.845, P=0.001<0.05).Conclusion This meta-analysis showed that G6 PD-deficiency can decrease the risk of malaria in fection. The result suggests that we should pay more attention to the difference of resistance abili ty of malaria disease in G6 PD deficiency population in various regions, especially the order of sev erity in G6 PD deficiency in different regions.

关键词： Meta-analysis Study The Correlation between G6PD Deficiency and Malaria Infection Rates

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Genetic Diagnosis in a Big Chinese Family with Polycystic Kidney Disease and Thalassemia Minor

Genetic Diagnosis in a Big Chinese Family with Polycystic Ki...

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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 Jun Miao Yun Chen Jianfan Xu Huiling Huang Huajie Xu Xiangmin Xiong Fu Department of Medical Genetics Southern Medical University Department of Organ Transplantation Nanfang Hospital

Objective To identify genetic defects in a large family with polycystic kidney disease and thalasse mia minor. Method Whole genome next-generation sequencing was performed on the proband and clinical e valuation was taken in the whole family. Then Sanger sequencing was used to identify the mutati ons discovered by NGS in family. The pathogenic potential of the variants were evaluated by Poly Phen-2, SIFT algorithm and Mutation taster. In vivo kidney assays of immunohistochemistry, west ern blot, immunofluorescence and TUNEL were performed to investigate the differences of PC1 e xpression, proliferation and apoptosis between the proband and normal control. Result Five members were found having the PKD and six members took thalassemia minor. The proband also had sistus inversus totalis besides PKD and thalassemia minor. A novel PKD1 trunc ation mutation(c.3903 del C, p.A1302 Pfs) was found co-segregated with the renal disease in famil y. And a big α-thalassemia deletion(*** deletion, SEA deletion) connected to the thalasse mia minor was confirmed. In vivo kidney assays showed a higher PC1 level in the dilated renal tu bule and increased proliferation and apoptosis. Besides, four members harbored the COL4 A5 p.G935 V(rs78972735), which was annotated as pathogenic in db SNP and HGMD, while they have no clinical symptom of Alport syndromes. Conclusion A novel pathogenic PKD1 mutation(c.3903 del C) and a thalassemia SEA deletion w as found responsible for the clinical symptoms of the family. And the COL4 a5 variant(c.G2858 T, rs78972735) is not pathogenic alone.

关键词： Genetic Diagnosis in a Big Chinese Family with Polycystic Kidney Disease and Thalassemia Minor

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Concurrent Genetic Diagnosis of Beta Thalassemia Mutation and Aneuploidy Screening at Single-Cell Level

Concurrent Genetic Diagnosis of Beta Thalassemia Mutation an...

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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： Liu Wei Qiang Liu Jian Qiao He Wen Yin Du Hong Zi Zhang Hui Min Hu Dan Sun Xiao Fang Third affiliated hospital of guangzhou medical university

Objective The purpose of this study is to evaluate the WGA efficiency at HBB gene region between two most popular WGA method, MALBAC and MDA. Thus to chose the best WGA method for pre-implantation genetic diagnosis of β-thalassemia disorders. Method For WGA efficiency evaluation, 11 samples each contained single-fibroblast cell, 11 samples contained two-fibroblast cells and 11 samples contained five--fibroblast cells were prepared for subsequent genetic analysis. For comparison, each 8 of cell types were used to evaluate the efficiency of MDA method. 48 single-blastomeres derived from discarded embryos, which were donated from IVF Center, were also amplified using MALBAC and MDA. Highthroughput sequencing with low depth was performed to evaluation the HBB detection rate, allele dropout rates and chromosomal copy number variation status between these two methods. Result The success rate of chromosmal copy number variation detection in fibroblasts samples was 100% in MALBAC group and 91.67% in MDA group;However, the successful WGA rate in single-blastomere samples was 87.50% when using MALBAC method group while it was 79.17% in MDA method group. The ADO of two HBB allele rate was 4.55%(3/66) in MALBAC group and it increased to 22.5%(9/40) when in MDA group. ADO rate of 60 SNP sites whic was close to the HBB gene was 2.98% in MALBAC and 5.19% in MDA group. Conclusion MALBAC has a higher level of uniformity, specificity and lower ADO ratio in PGD for β-thalassemia at single cell level than that of MDA;Combined with haplotype analysis with SNP markers, MALBAC is superior to MDA in PGD of β-thalassemia disease.

关键词： WGA SNP Concurrent Genetic Diagnosis of Beta Thalassemia Mutation and Aneuploidy Screening at Single-Cell Level

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Non-Invasive Pre-Implantation Aneuploidy Screening and Diagnosis of Beta Thalassemia IVSⅡ654 Mutation using Spent Embryo Culture Medium

Non-Invasive Pre-Implantation Aneuploidy Screening and Diagn...

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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： Liu Weiqiang Liu Jian Qiao Du Hong Zi Ling Jia Wei Sun Xiao Fang Chen Dun Jin Third affiliated hospital of guangzhou medical university

Objective Cell-free nuclear DNA has been isolated from spent embryo culture medium. Whether these small amount of DNA can be amplified at the whole genome level and the concordance rate of karyotypes and specific alleles between biopsied cells and media has not been evaluated. The purpose of this study is to investigate whether cell-free nuclear DNA isolated from spent culture medium can be amplified at the whole genome level and to compare the concordance rate of karyotypes and specific alleles between biopsied cells and media. Method Seven couples were recruited and 88 donated embryos and their corresponding media were collected for whole genome amplification(WGA). The efficiency of WGA, and the concordance of chromosome status and the HBB gene IVSⅡ654 allele between biopsied cells and media were investigated using Next Generation Sequencing. Result After WGA, the DNA detection rate was 90.90% with a mean concentration of 26.15 ng/μl. The full chromosome concordance rate between biopsied cells and medium was 64.52%, and it increased to 90.00% for diploid blastocyst samples. Analysis of the mutated IVSⅡ654 locus and SNP linkage verified that the DNA present in the medium originated from embryonic cells. Conclusion We confirmed that nuclear DNA is present in spent culture medium, and that the majority of this DNA can be amplified for subsequent analysis. Our results showed that noninvasive embryo genetic testing at the chromosomal-level using medium can concordant to the biopsied cells, but it needs further optimized before use in clinical applications.

关键词： Non-Invasive Pre-Implantation Aneuploidy Screening and Diagnosis of Beta Thalassemia IVS Mutation using Spent Embryo Culture Medium

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DNA methylation mediates genotype and smoking interaction in the development of anti-citrullinated peptide antibody-positive rheumatoid arthritis

DNA methylation mediates genotype and smoking interaction in...

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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： Liu Yun 复旦大学基础医学院

Objective Rheumatoid arthritis(RA) is a chronic autoimmune disease that leads to inflammation of the joints and surrounding tissues. Multiple factors, including interactions between genetic andenvironmental risks, are important in RA susceptibility. However, the underlying functional background is not fully understood. Epigenetic modifications, such as DNA methylation, can be influenced by both internal genetic and external environmental risk factors and are critical for phenotypic plasticity. Here, we tested the hypothesis that DNA methylation can integrate both genetic and environmental cues and mediate the interaction between genotype and smoking in the development of anti-citrullinated peptide antibody(ACPA)-positive RA. Method Using data from multiple cohorts, one significant interaction between genotype and smoking on DNA methylation was identified and replicated using a linear regression model. This interaction between genotype and smoking is a novel interaction impacting the risk of developing ACPA-positive in both a cohort composed of Caucasians and a cohort composed of Asian descent, evaluated by a linear regression model as well as by departure from the additivity of effects. Finally, we showed that DNA methylation mediates this gene-environment interaction on the risk of developing of ACPA-positive RA by a mediation analysis. Result We identified one significant gene-environment interaction between a SNP and smoking on DNA methylation, which has been shown previously to be associated with the risk of developing ACPA-positive RA. Additionally, we show that the gene-environment interaction represents a novel interaction that confers the risk of developing ACPA-positive RA in different ethnic groups and this gene-environment interaction is mediated through DNA methylation. Conclusion To the best of our knowledge, this is the first report showing that DNA methylation can mediate gene-environment interaction regarding the development of a common disease, thus

关键词： DNA methylation mediates genotype and smoking interaction in the development of anti-citrullinated peptide antibody-positive rhe

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Epigenetic Memory Affects Hematopoietic Efficiency of i PSCs Derived from PBMCs and KRAS Enhanced the Differentiation to CD34+ Cell

Epigenetic Memory Affects Hematopoietic Efficiency of i PSCs...

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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： Fan Di Niu Xiaohua Song Bing Sun Xiaofang The Third Affiliated Hospital of Guangzhou Medical University

Objective Several studies have discussed the possibility that donor cell type may influence the e pigenetics and differentiation potential of i PSCs, but it remains unclear whether i PSCs derived fro m different tissue sources reserve their epigenetic memory. Method we clarify that i PSCs obtained from different tissues exhibit specific epigenetic patterns. We determined the DNA methylation profiles of 18 human cell lines, including h ESC lines, adult fi broblast cell-derived i PSC lines, peripheral blood-derived mononuclear cell-derived i PSC lines, a mniotic cell-derived i PSC lines and their corresponding parent cell lines. Result We found that the catalog of tissue-specific DNA methylation was preserved in the i PSC li ne as epigenetic memory during reprogramming. In addition, we observed that epigenetic memor y influences the in vitro differentiation potential and that among the i PSCs derived from three type s of somatic cell, the i PSCs from PBMCs showed high efficiency of hematopoietic differentiation. Furthermore, we found that tissue-specific expression of KRAS in both PBMCs and i PSCs derive d from PBMCs. Bisulfite sequencing proved a tissue specific DNA methylation exiting in the gene body of KRAS. Conclusion Our results demonstrated that tissue memory was passed from somatic cells to i PS cells via preservation of Cp G methylation;KRAS carried a specific memory of PBMCs in its gene body, which benefits the hematopoietic efficiency of PBMC-derived i PSCs. Our finding suggested that the tissue memory of PBMCs may offer a new avenue for therapeutic interventions against h ematologic diseases based on the i PSC technique.

关键词： Epigenetic Memory Affects Hematopoietic Efficiency of i PSCs Derived from PBMCs and KRAS Enhanced the Differentiation to CD34 PBMCs

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A novel compound heterozygous variants in the LHCGR gene identified in a leydig cell hypoplasia type 1 pedigree

A novel compound heterozygous variants in the LHCGR gene ide...

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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 Yufei Chen Yulin Hu Xuyun Li Guoqing Wang xiumin Shen Yiping Wang Jian Department of Medical Genetics and Molecular Diagnostic Laboratory Shanghai Children's Medical CenterShanghai Jiao Tong University School of Medicine Department of Laboratory Medicine Boston Children's Hospital

Objective Leydig cell hypoplasia（LCH） is a rare disease and one of the causes of male disorder of sexual differentiation（DSD） in severe cases. Mutations in the LH/chorionic gonadotrophin receptor（LHCGR） gene leading to dysfunction of the receptor account for the underlying pathogenicity. Two subtypes have been classified based on clinical severity. This study aimed to analyze the clinical presentation and diagnosis as well as molecular characteristics of a patient with LCH type 1. Method Clinical data including medical history, hormone profiles, imaging examination, etc. were collected and analyzed from the patient. The pedigree was performed by the next generation sequencing（NGS） technology using peripheral blood genomic DNA, and the relevant mutations identified by NGS were verified with Sanger sequencing. Result We describe a 5-year-old social gender female patient presented with male pseudohermaphroditism, lateral inguinal hernia companied by abnormal hormone tests. The molecular test revealed a novel compound heterozygous variants in the LHCGR gene, including a splice site mutation（c.681-1 G>A） and a frameshift variant（c.1582585 del ATAT, ***528*）, which could be categorized into "pathogenic" according to the criteria recommended by the American College of Medical Genetics and Genomics（ACMG）. Conclusion We identified a novel compound heterozygous variants in the LHCGR gene in a LCH patient, and expanded the genotype-phenotype correlation spectrum of LHCGR variants. Further researches on the receptor function will contribute to better understand and clarify the relationship between the structure and action of LHCGR.

关键词： LHCGR A novel compound heterozygous variants in the LHCGR gene identified in a leydig cell hypoplasia type 1 pedigree

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