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Biallelic variants in RBM42 cause a multisystem disorder with neurological,facial,cardiac,and musculoskeletal involvement

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Protein & Cell 2024年第1期15卷 52-68页

作者： Yiyao Chen Bingxin Yang Xiaoyu Merlin Zhang Songchang Chen Minhui Wang Liya Hu Nina Pan Shuyuan Li Weihui Shi Zhenhua Yang Li Wang Yajing Tan Jian Wang Yanlin Wang Qinghe Xing Zhonghua Ma Jinsong Li He-Feng Huang Jinglan Zhang chenming xu Institutes of Biomedical Sciences Fudan UniversityShanghai 200032China bstetrics and Gynecology Hospital Institute of Reproduction and DevelopmentFudan UniversityShanghai 200011China Intermational Peace Matermity and Child Health Hospital School of MedicineShanghai Jiao Tong UniversityShanghai 200030China Shanghai Key Laboratory of Embryo Original Diseases Shanghai 200030China State Key Laboratory of Cell Biology Shanghai Key Laboratory of Molecular AndrologyShanghai Institute of Biochemistry and Cell BiologyCAS Center for Excellence in Molecular Cell ScienceUniversity of Chinese Academy of SciencesChinese Academy of SciencesShanghai 200031China State Key Laboratory of Rice Biology the Key Laboratory of Molecular Biology of Crop Pathogens and InsectsInstitute of BiotechnologyZhejiang UniversityHangzhou 310058China Verna and Marrs McLean Department of Biochemistry and Molecular Biology Baylor College of MedicineHoustonTX 77030USA Children's hospital of Fudan University Shanghai 201102China School of Life Science and Technology Shanghai Tech UniversityShanghai 201210China School of Life Science Hangzhou Institute for Advanced StudyUniversity of Chinese Academy of SciencesHangzhou 310024ZhejiangChina Research Units of Embryo Original Diseases Chinese Academy of Medical Sciences(No.2019RU056)Shanghai 200011China

Here,we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 *** patient is a 2-year-old female with severe central nervous system(CNs)abnormalities,hypotonia,hearing loss,congenital heart defects,and dysmorphic facial *** whole-exome sequencing(WEs)reveals that the patient has two compound heterozygous variants,c.304C>T(p.R102*)and c.1312G>A(p.A438T),in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein *** p.A438T variant is in the RRM domain which impairs RBM42 pro-tein stability in ***,p.A438T disrupts the interaction of RBM42 with hnRNP K,which is the causa-tive gene for Au-Kline syndrome with overlapping disease characteristics seen in the index *** human R102*or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout△FgRbp1 in Fusarium while it was rescued by the wild-type(WT)human RBM42.A mouse model carying Rbm42 compound heterozygous variants,c.280C>T(p.Q94*)and c.1306_1308delinsACA(p.A436T),demonstrated gross fetal develop-mental defects and most of the double mutant animals died by ***-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing(As).Overall,we present clinical,genetic,and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.

关键词： RBM42 gene RNA-binding protein neurodevelopmental disorder Au-Kline syndrome alternative splicing

全外显子测序技术在遗传性眼病诊断中的应用研究

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中华医学杂志 2024年第26期104卷 2438-2444页

作者：张丽刘聪陈松长徐晨明复旦大学附属妇产科医院妇产科遗传中心上海

目的评估全外显子组测序(WES)在遗传性眼病诊断中的应用。方法本研究收集2020年12月至2023年12月以先天性眼部疾病为主诉在复旦大学附属妇产科医院进行生殖遗传咨询的患者为研究对象, 共24例。所有病例均已排除了已知感染或暴露于已知... 详细信息

目的评估全外显子组测序(WES)在遗传性眼病诊断中的应用。方法本研究收集2020年12月至2023年12月以先天性眼部疾病为主诉在复旦大学附属妇产科医院进行生殖遗传咨询的患者为研究对象, 共24例。所有病例均已排除了已知感染或暴露于已知的致畸药物、核型和染色体微阵列分析(CMA)异常。采集先证者及其家系成员外周血样本, 提取基因组DNA并进行WES检测, 其中单人WES 3例, 家系WES 21例, 分析筛选出潜在致病位点并进行致病性分类及Sanger测序验证。针对 RPGRIP1:c.1611+26G>A 内含子变异构建 minigene载体行逆转录实时荧光定量聚合酶链反应(RT-qPCR)检测 mRNA 剪接影响。结果 24个家系中20(83.3%)个获得了明确病因的阳性结果, 共涉及21个基因, 鉴定出30个不同变异, 其中19个为新变异。家系3产前诊断分析结果显示胎儿PRPF8基因携带c.6970G>T杂合无义突变;家系24中非经典剪接位点minigene载体RT-PCR 结果提示突变型质粒转录产物 12号内含子部分保留 104 bp, 即***538Valfs*12。结论 WES在遗传性眼病诊断中的高检出率进一步支持了其应用优势, 可作为明确遗传性眼病病因的重要分子检测工具。

关键词：眼疾病, 遗传性分子诊断技术全外显子测序剪接位点变异 minigene验证

A Theoretical Model of Arc Light Radiation Based on GTA Spectral Diagnosis

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Journal of Materials Science & Technology 2003年第z1期19卷 99-100页

作者： chenming xu Hongming GAO Guangjun ZHANG Lin WU State Key Laboratory of Advanced Welding Production Technology Harbin Institute of Technology Harbin 150001 China State Key Laboratory of Advanced Welding Production Technology Harbin Institute of Technology Harbin 150001 China State Key Laboratory of Advanced Welding Production Technology Harbin Institute of Technology Harbin 150001 China State Key Laboratory of Advanced Welding Production Technology Harbin Institute of Technology Harbin 150001 China

An arc light radiation phenomenon in TIG welding process was studied through experiments and theoretical *** arc spectra were acquired under a variety of welding parameters from 200 nm to 1000 nm wavelength rangein TIG. The influence of welding parameters on the arc radiation was discussed. The radiation energy from linesemission mechanisms was calculated and the comparison was made with the one from the continuum emissionmechanisms. The result shows that the radiation energy from the line emission mechanisms is equal to the one fromthe background. Based on the experiments and analysis, a physical model of arc light radiation has been *** this model. the arc plasma was presumed to be in local thermal equilibrium (LTE) with light thinness *** Bolzmann distribution and Saha equation were applied to establish the arc light radiation model. This helps laythe foundation for further mathematical modeling of the arc light radiation.

关键词： Spectral diagnosis, Arc light radiation, Theoretical model, TIG

针对生育人群的携带者筛查实验室和临床实践专家共识

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中华生殖与避孕杂志 2024年第2期44卷 109-115页

作者：中国妇幼保健协会生育保健分会黄荷凤徐晨明陈松长杨昀不详复旦大学生殖发育研究院上海200001 复旦大学附属妇产科医院妇产科遗传中心上海200001 复旦大学附属妇产科医院深圳华大基因股份有限公司

作为一项孕前/孕早期筛查技术,携带者筛查已经由最初仅针对特定人群、特定疾病发展为现如今的针对一般人群、多种疾病的筛查,在防控常染色体隐性或X连锁遗传病引起的出生缺陷方面表现出了显著的临床效用,增加了受检夫妇的生育自主权。... 详细信息

作为一项孕前/孕早期筛查技术,携带者筛查已经由最初仅针对特定人群、特定疾病发展为现如今的针对一般人群、多种疾病的筛查,在防控常染色体隐性或X连锁遗传病引起的出生缺陷方面表现出了显著的临床效用,增加了受检夫妇的生育自主权。为规范携带者筛查的实验室检测和临床实施,经中国妇幼保健协会生育保健分会专家讨论,结合我国实际情况,制定本专家共识,供临床应用参考。

关键词：携带者筛查高通量测序技术疾病选择筛查策略检测前遗传咨询检测后遗传咨询

新一代无创产前筛查技术NIPT2.0临床应用策略专家共识

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中华医学遗传学杂志 2024年第10期41卷 1155-1163页

作者：中国妇幼保健协会生育保健分会徐晨明阴赪宏尹爱华刘珊玲蒋宇林罗琼王华黄荷凤不详复旦大学附属妇产科医院遗传中心上海200011 首都医科大学附属北京妇产医院/北京妇幼保健院产前诊断中心北京100026 广东省妇幼保健院医学遗传中心广州510010 四川大学华西第二医院医学遗传科/产前诊断中心成都610041 北京协和医院产科北京100730 浙江大学医学院附属妇产科医院妇产科杭州310006 湖南省儿童医院医学遗传科国家卫健委出生缺陷研究与预防重点实验室长沙410021 复旦大学生殖与发育研究院上海200433

新一代无创产前筛查技术(NIPT2.0)是近年来基于高通量测序成功实现的对胎儿染色体非整倍体、微缺失/微重复综合征和显性单基因遗传病进行同步筛查的新型无创产前检测方法。NIPT2.0弥补了上一代无创产前筛查技术(NIPT和NIPT Plus)无法检... 详细信息

新一代无创产前筛查技术(NIPT2.0)是近年来基于高通量测序成功实现的对胎儿染色体非整倍体、微缺失/微重复综合征和显性单基因遗传病进行同步筛查的新型无创产前检测方法。NIPT2.0弥补了上一代无创产前筛查技术(NIPT和NIPT Plus)无法检测胎儿单基因遗传病、对部分染色体异常(尤其是13三体、性染色体异常和部分微缺失/微重复综合征)检测不够准确、阳性预测值较低的缺陷。如何合理、规范地应用NIPT2.0,最大限度地发挥其临床价值,已成为亟待明确的问题。鉴于此,中国妇幼保健协会生育保健分会组织专家对上述问题进行了充分的讨论,共同起草了本共识,对NIPT2.0的临床应用策略,包括适用范围、目标疾病、检测前咨询、临床应用路径、检测后遗传咨询和干预、质量控制、局限性等方面提出建议,供国内同行参考,以规范其应用,更好地为临床服务。

关键词：无创产前筛查染色体异常显性单基因遗传病专家共识

Different segregation patterns in five carriers due to a pericentric inversion of chromosome 1

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Different segregation patterns in five carriers due to a per...

关注植入前胚胎遗传学检测技术在出生缺陷和罕见病预防与控制领域的开展

2014浙江省医学会医学遗传学学术年会

作者： Yuqin Luo chenming xu Yixi Sun Liya Wang Songchang Chen Fan Jin Department of Reproductive Genetics Women's HospitalZhejiang University School of Medicine Key Laboratory of Reproductive Genetics(Zhejiang University) Ministry of Education Centre of Reproductive Medicine Women's HospitalZhejiang University School of Medicine

Pericentric inversion can produce recombinant gametes,meiotic segregation studies on the relation between the frequency of recombinants and the inverted segment size are ***-color fluorescence in-situ hybridization(FISH)was performed to analyze the meiotic behavior in five inv(l)carriers with different *** gametes were absent in patient 1,whereas the percentages of the recombinants in patients 2,3,4 and 5 were of 9.2%,15.3%,17.3%and 40.9%,respectively.A significant difference was present for the frequencies of the recombinant spermatozoa among the five patients(P0.05).The meiotic segregation of nine inv(l)carriers(including ours)is now available.A significant correlation was discovered between the rate of recombination and the proportion of the chromosome implicated in the inversion(R=0.9435,P<0.001).The frequency of the recombinant gametes was directly related to the proportion of the chromosome that was ***-FISH allowed an additional comprehension of the patterns of meiotic segregation and provided accurate genetic counseling.

关键词： meiotic segregation pericentric inversion sperm FISH chromosome 1 infertility

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中华预防医学杂志 2021年第7期55卷 805-810页

作者：许乃馨黄荷凤徐晨明上海交通大学医学院附属国际和平妇幼保健院上海200030 上海市胚胎源性疾病重点实验室上海200030 复旦大学生殖与发育研究院上海200032 复旦大学附属妇产科医院遗传中心上海200011

出生缺陷和罕见病是我国乃至全球所面临的严峻挑战,大多数尚缺乏有效的治疗手段。植入前胚胎遗传学检测技术(PGT)通过在胚胎着床前阶段进行遗传检测,挑选正常胚胎进行移植,从而在源头上阻断了该类疾病的发生。本文针对出生缺陷和罕见病... 详细信息

出生缺陷和罕见病是我国乃至全球所面临的严峻挑战,大多数尚缺乏有效的治疗手段。植入前胚胎遗传学检测技术(PGT)通过在胚胎着床前阶段进行遗传检测,挑选正常胚胎进行移植,从而在源头上阻断了该类疾病的发生。本文针对出生缺陷和罕见病的PGT方法及其新进展进行阐述。

关键词：植入前诊断遗传性疾病先天畸形

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HEVC对偶编码单元划分优化算法

北京航空航天大学学报 2022年第8期48卷 1383-1389页

作者：刘美琴徐晨铭姚超林春雨赵耀北京交通大学信息科学研究所北京100044 现代信息科学与网络技术北京市重点实验室北京100044 北京科技大学计算机与通信工程学院北京100083

为了解决视频数据量日益增长与用户享受高质量视频体验需求之间的矛盾,HEVC在H.264/AVC标准的基础上通过引入新型的编码结构和算法进一步将编码效率提升了50%,但是也极大地提升了编码复杂度。基于此,提出对偶编码单元(CU)划分网络DualN... 详细信息

为了解决视频数据量日益增长与用户享受高质量视频体验需求之间的矛盾,HEVC在H.264/AVC标准的基础上通过引入新型的编码结构和算法进一步将编码效率提升了50%,但是也极大地提升了编码复杂度。基于此,提出对偶编码单元(CU)划分网络DualNet,来降低HEVC中帧内编码复杂度。该网络由预测网络和目标网络2个部分组成,其中,预测网络通过分析图像统计特征实现编码单元划分决策,从而跳过四叉树的遍历搜索,提高编码单元划分决策的时间效率;目标网络基于率失真代价评价和优化决策模型提升编码单元划分性能,实现模型互补和最优率失真估计。实验结果表明:与HEVC标准对比,所提算法在实现相近的压缩效果的前提下能够节省64.06%的编码时间。

关键词：视频编码 H.265/HEVC 编码单元(CU)划分深度学习对偶神经网络

Integrated facial analysis and targeted sequencing identifies a novel KDM6A pathogenic variant resulting in Kabuki syndrome

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Journal of Bio-X Research 2018年第3期1卷 140-146页

作者： Weihui Shi Yiyao Chen Songchang Chen Shuyuan Li Chunxin Chang Lanlan Zhang Hongjun Fei Hefeng Huang Junyu Zhang chenming xu International Peace Maternity and Child Health Hospital Institute of Embryo-Fetal Original Adult Disease Affiliated to Shanghai Jiao Tong University School of MedicineShanghaiChina

Kabuki syndrome(KS)is a rare congenital mental retardation condition characterized by facial dysmorphia,visceral and skeletal malformations,and developmental *** integrated phenotype and genotype-based prioritization is critical for diagnoses of genetic *** this study,a Chinese woman,presenting with characteristic facial features of KS,came for pre-pregnancy *** aimed to clarify the diagnosis and provide pre-pregnancy genetic *** dysmorphology analysis and next-generation sequencing-based multigene panel approach were used to identify candidate syndromes and causative variants,*** candidate variant was verified by Sanger *** identified a novel de novo KDM6A pathogenic variant(c.3521G>A)in the woman,which was in line with the Face2Gene analysis *** blood RNA assay showed that the variant transcript underwent the nonsense-mediated mRNA decay and led to subsequent haploinsufficiency of *** study provides the genetic diagnosis method for KS type 2 and identifies the first KDM6A point variant in Chinese patient.

关键词： facial analysis Kabuki syndrome type 2 RNA assay targeted sequencing