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A Novel MIP mutation in familial congenital nuclear cataracts

A Novel MIP mutation in familial congenital nuclear cataract...

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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 Litao Guo Liangjie Wang Hongdan Li Tao Lou Guiyu Guo Qiannan Hou Qiaofang Liu Hongyan Liao Shixiu Medical Genetic Institute of Henan Province Henan Provincial People's Hospital People's Hospital of Zhengzhou University

Objective Next-generation Squencing(NGS) has been widely used to detect mutations in genetic disorder. Congenital cataracts are a clinical disorder of opacity of the crystalline lens, usually pre senting at birth or during infancy, childhood or adolescence. Here, we employ NGS to detect the mutaion gene in a four-generation family with inherited cataract. Method We screened 60 known genes which are involved in inherited cataract by NGS. The can didate pathogenic gene according the next-generation sequencing, was analyzed by Sanger seq uencing. Result We identified a heterozygous mutation, c.508 dup C(p.L170 fs), in the major intrinsic pro tein(MIP) gene. This mutation results in a frame-shift in MIP and has not been previously reporte d. The correlation of the mutation with disease was validated by Sanger sequencing of DNA from the other affected or unaffected members of the family. Conclusion Our data expand the mutation spectrum of MIP mutation, and suggest that NGS is a n accurate, rapid, and cost-effective method in the genetic diagnosis of congenital nuclear cataract.

关键词： NGS A Novel MIP mutation in familial congenital nuclear cataracts

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To Research the Mechanism of the Cleft lip/palate Development by constructing the iPS cell line

To Research the Mechanism of the Cleft lip/palate Developmen...

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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 zhihua The third hospital affiliated to guangzhou medical university

Objective Many CLP patients are caused by single point gene mutations, which control epiderma l development and homeostasis. Phenotypic defect of the CLP syndrome is characteristic by skin defects. Most CLP babies could be prenatal diagnosed by the ultrasound on the pregnant women. Induced pluripotent stem cells(i PSCs) derived from somatic cells of patients represent a powerfu l tool for biomedical research and may have a wide range of applications in cell and gene therapy. Method In this study, we generated the i PSC lines from the amniotic fluid derived fibroblasts of h ealthy donors and CLP patients with microdeletion by retroviral vectors encoding Oct4, Sox2 and Klf4. Result CLP-i PSC showed a normal karyotype after long-term culturing in vitro, and harbored the same microdeletion as confirmed by microarray analysis. The cells have maintained their different iation capacity both in vivo and in vitro. Conclusion The CLP-i PSCs harboring the microdeletion have all the characteristics of normal pl uripotent stem cells, and can be used for directed differentiation into specific cells, which may pro vide an ideal cell seed both for repair and transplant to the CLP patients, and also for the researc h of the mechanism of cleft development

关键词： To Research the Mechanism of the Cleft lip/palate Development by constructing the iPS cell line CLP

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A discordant non-invasive prenatal test result in a trisomy 18 pregnancy due to 48, XX, +5, +18 placental mosaicism

A discordant non-invasive prenatal test result in a trisomy ...

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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 Leilei Yang Shuting Mao Huafen Yin Ting Gu Ying Lianyungang maternal and child health hospital

Objective In this study, we investigated the genetic basis of a discordant T5 positive and T18 n egative NIPT result associated with a T18 fetus confirmed by karyotyping. Method The aneuploidies of fetal and placental tissues were investigated by SNP-array and mas sively parallel sequencing, which were further validated by karyotyping analysis and quantitative fl uorescent PCR of short tandem repeat(STR) sequences. Result SNP-array and massively parallel sequencing examination of multiple placental biopsies r evealed a confined placental mosaicism(CPM) with non-mosaic T18 fetus and multiclonal placen ta with high level of T5 and low level of T18 cells. Based on fetal DNA fractions and average mos aicism levels, the effective T18 fetal DNA fraction was about 4%, which was close to the threshol d for the detection of trisomy. Conclusion For the reason the primary source of the fetal cell-free DNA was mostly originated fr om trophoblast cells of placentas, the level of T18 placental mosaicism could cause false negativ e NIPT result in rare case of multiple aneuploidies.

关键词： A discordant non-invasive prenatal test result in a trisomy 18 pregnancy due to 48 placental mosaicism

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Detection of rare alpha-thalassemia by using multiplex ligation-dependent probe amplification in southwestern China

Detection of rare alpha-thalassemia by using multiplex ligat...

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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： Cai Ren Tang Ning Huang Jiwei Yan Tizhen Luo Shiqiang Li Wugao Li Zhetao Huang Jun Li Jingwen Zhong qingyan Ya Jiaolian Liuzhou Maternal and Child Health Care Hospital

Objective To identify the rare alpha-thalassemia in southwestern China. Method 25 individuals suspected of having alpha-globin alteration(s), in which no or doubtful mut ations had been found using conventional methods, were screened by reliable multiplex ligation-d ependent probe amplification(MLPA) assay. Result In 19 out of 25 patient samples, we found 15 different alpha-thalassaemia deletions, four of which were not previously described. One novel deletions leaving the alpha-globin gene cluster intact were found to cause a complete downregulation of the downstream alpha-genes. These de letions, which are not easily detected by conventional techniques, may have clinical implications d uring pregnancy ranging from mild to life threatening microcytic haemolytic anaemia in neonates. Conclusion The MLPA assay is a rapid and sensitive method for high resolution analysis of the g lobin gene clusters in the high-incidence area of thalassemia, to allow characterizing previously u nsolved α-thalassemia genotypes.

关键词： Detection of rare alpha-thalassemia by using multiplex ligation-dependent probe amplification in southwestern China

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The role of Phoshatidylserine flippase in cone opsin trafficking and cone survival in the retina

The role of Phoshatidylserine flippase in cone opsin traffic...

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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： Zhu Xianjun Sichuan Provincial People's Hospital

Objective Photoreceptor cells are specialized cells with elongated outer segment cilia. Proper protein sorting and trafficking is essential for photoreceptor development and function. Phosphatidylserine flippase Atp8 a2 is important for the function and structure of photoreceptors. Loss of Atp8 a2 in mice led to degeneration of both rod ad cone cells. However, the mechanisms underlying the disease remain unknown. To better understand the role of Atp8 a2 in the retina, we investigated the roles of Atp8 a2 in protein trafficking. Method Atp8 a2 mutant retinas were analyzed for expression and localization of phototransduction cascade proteins by western blotting and immunohistochemistry. Result Atp8 a2 mutant retina developed shorter outer segment at one month of age. Expression of Green Opsin andcyclic nucleotide-gated channel CNG3 was reduced dramatically. Immunostaining revealed mislocalization of blue opsin and green/red opsin, GRK1 and cone CNG3 in the cone cells. Conclusion Loss of Atp8 a2 in the mice led to degeneration in cone cells. Our data suggest an essential role of phosphatidylserine flippase in retinal degeneration.

关键词： The role of Phoshatidylserine flippase in cone opsin trafficking and cone survival in the retina

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A novel locus for autosomal dominant high hyperopia mapped to chromosomal 11

A novel locus for autosomal dominant high hyperopia mapped t...

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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： Xiao Xueshan Li Shiqiang Jia Xiaoyun Guo Xiangming Zhang Qingjiong State Key Laboratory of Ophthalmology Zhongshan Ophthalmic Center Sun Yat-sen University

Objective High hyperopia is a common and severe refractive error associated with blurred vision, asthenopia, amblyopia and strabismus. This study is to map the genetic locus of autosomal domi nant high hyperopia in a large Chinese family Method An autosomal dominant high hyperopia was identified in five generation family with 16 aff ected patients. A genome wide linkage scan on 20 family members(14 affected) was performed by genotyping microsatellite markers at about 10 c M intervals, together with two-point linkage ana lysis. In the meantime, analysis of shared novel alleles on data from whole exome sequencing wa s used to confirm the linkage region and to search for potential candidate variants. Result High hyperopia in this family shows linkage to markers in 27.1 c M region on chromosome 11. All ten markers in the linkage interval gave positive lod scores, with maximum two-point lod scores of 4.68 at theta=0. Analysis of shared alleles identified only one region with multiple novel va riants, which also located in the linkage interval. Conclusion A novel locus for autosomal dominant high hyperopia is mapped to chromosomal 11. Analysis of additional families and functional study on candidate variants may lead to identificatio n of the gene responsible for autosomal dominant high hyperopia.

关键词： A novel locus for autosomal dominant high hyperopia mapped to chromosomal 11

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Precise Prenatal Diagnosis of a Chinese Duchenne muscular dystrophy family with gonadal mosaicism

Precise Prenatal Diagnosis of a Chinese Duchenne muscular dy...

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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 Hongyan Wu Dong Li Tao Wang Hongdan 河南省人民医院医学遗传研究所

Aims Gonadal mosaicism is a general phenomenon accompanied with new mutations in dystrop hin gene, which can increase the recurrence risk of the children whose mothers are considered n on-carrier based on leukomonocyte DNA genetic testing. In this study the precise genetic diagnos is was performed on one 5-year-old boy with Duchenne muscular dystrophy(DMD) and his family members. Methods The peripheral venous blood and amniotic fluid were collected from this family member s respectively after the informed consent was obtained from all individuals. The MLPA reactions were performed to screen all the exons of dystrophin gene of the boy, two fetuses and their moth er. Dystrophin gene intragenic STR-(CA)n marker, array-CGH, gap-PCR and quantitative real-tim e PCR were used to confirm the deletion variation and the precise breakpoints of dystrophin gene. Results Five exons(exons 48 to 52) deletion in dystrophin gene of the boy was found and the sa me deletion was found in dystrophin gene of two fetuses. But the deletion of dystrophin gene was not detected in leukomonocyte DNA of the mother. The exact breakpoint positions were located i n a nucleotide of microhomology A from chrx: 31,945,542/chrx: 31,945,543 to chrx: 31,743,852/c hrx: 31,743,853, total 201,691 bp deletions. Conclusions The mother should be an obligatory carrier with gonadal mosaicism and it was she who passes this disease on to her children.

关键词： Precise Prenatal Diagnosis of a Chinese Duchenne muscular dystrophy family with gonadal mosaicism

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Polymorphism of HLA-DRB1 loci in Henan Han population

Polymorphism of HLA-DRB1 loci in Henan Han population

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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： Guo Qian-nan Li-zhen Tie Xiao-mei Zhang Qiao-fang Hou Tao Li Shixiu Liao Henan Provincial People's Hospital

Objective To investigate the allelotype and frequencies of human leukocyte antigen-DRB1 gene alleles in Henan Han population at the DNA level,and further to analysis the distribution of the al leles of HLA-DRB1 by comparison Henan province with other places(Hubei, Guangdong and Jilin three provinces) in China. Method Distinguishing the allele subtypes of HLA-DRB1 of 1730 Henan Han population by PCRSSP. Result 13 allelotypes of HLA-DRB1 were detected in Henan Han population;and mong the 13 all elotyps, HLA-DRB1*15 allele(18.12%) was the most frequently appeared allele, DRB1*10 allele(1.33%) was the most infrequently appeared allele. The allele frequencies of DRB1 of Henan Han population were most similar to Jilin Han population wih signifiance(P>0.05%) only for HLA-DRB1*03、DRB1*12、DRB1*13、DRB1*14 and DRB1*16 five alleloypes. There were nine allelotyps among Henan and Guangdong Han population were significant diferent(P<0.05) and There were eight allelotyps among Henan and Hubei Han population were significant diferent(P<0.05). Conclusion The high frequency of HLA-DRB1*15 allele in Henan Han populaion may suppose th at there would be a high incidene of drug inuced liver injury among Henan Han population.

关键词： DRB HLA Polymorphism of HLA-DRB1 loci in Henan Han population

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Identification and functional analysis of long non-coding RNAs in human and mouse early embryos based on single-cell transcriptome data

Identification and functional analysis of long non-coding 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： Qiu Jia-jun Ren Zhao-rui Yan Jing-bin 上海市儿童医院

Objective Epigenetics regulations have an important role in fertilization and proper embryonic de velopment, and several human diseases are associated with epigenetic modification disorders, su ch as Rett syndrome, Beckwith-Wiedemann syndrome and Angelman syndrome. However, the d ynamics and functions of long non-coding RNAs(lnc RNAs), one type of epigenetic regulators, in human pre-implantation development have not yet been demonstrated. Method A comprehesive analysis of human and mouse early-stage embryonic lnc RNAs was perf ormed based on publlic single-cell RNA sequencing data. Result Expression profile analysis revealed that lnc RNAs are expressed in a developmental stag e–specific manner during human early-stage embryonic development, whereas a more temporalspecific expression pattern was identified in mouse embryos. Weighted gene co-expression netw ork analysis suggested that lnc RNAs involved in human early-stage embryonic development are associated with several important functions and processes, such as oocyte maturation, zygotic ge nome activation and mitochondrial functions. We also found that the network of lnc RNAs involved in zygotic genome activation was highly preservative between human and mouse embryos, wher eas in other stages no strong correlation between human and mouse embryo was observed. Conclusion This study provides insight into the molecular mechanism underlying lnc RNA involve ment in human pre-implantation embryonic development.

关键词： RNA Identification and functional analysis of long non-coding RNAs in human and mouse early embryos based on single-cell transcriptome data

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A rare de novo interstitial duplication at 4p15.2 in a boy with severe congenital heart defects, limb anomalies, hypogonadism and global developmental delay

A rare de novo interstitial duplication at 4p15.2 in a boy w...

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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： Yuan Haiming Xie Yingjun Guangzhou kingmed center for clinical laboratory Co. Ltd King Med School of Laboratory Medicine Guangzhou Medical University The third affiliated hospital of Guangzhou Medical University

Objective Proximal 4 p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafeau-lait spots, developmental delay, tall and thin habitus and intellectual disability. At present, over 20 cases of this syndrome have been reported. However, duplication of reciprocal region of proximal 4 p deletion syndrome has never been reported. Here we report a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre-and postnatal developmental delay and mild cognitive impairments. Method Chromosomal microarray analysis(CMA) and Next-generation sequencing(NGS) were employed for our patient‘s tests. Result A de novo 4.5 Mb interstitial duplication at 4 p15.2 p15.1 was detected by CMA, and NGS confirmed the duplication and revealed no additional pathogenic variants. Several candidate genes in this interval responsible for the complex clinical phenotypes were identified, such as RBPJ, STIM2, CCKAR and LGI2 genes. Conclusion The results suggest a novel contiguous gene duplication syndrome.

关键词： CMA NGS A rare de novo interstitial duplication at 4p15.2 in a boy with severe congenital heart defects hypogonadism and global developmental delay limb anomalies

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