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Genetic analysis and preimplantation genetic diagnosis of Chinese marfan syndrome patients

Journal of Genetics and Genomics 2019年第6期46卷 319-323页

作者： Meng Qin Xiaohui Zhu Zhe Zhang Xuemin Li Zhiqiang Yan Yuqian Wang Shuo Guan Yihua He Wenxin Zhang Liying Yan Jie Qiao Xu Zhi Center for Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital Beijing 100191 China National Clinical Research Center for Obstetrics and Gynecology Beijing 100191 China Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education Beijing 100191 China Cardiac Surgery Department Peking University Third Hospital Beijing 100191 China Department of Ophthalmology Peking University Third Hospital Beijing 100191 China Department of Ultrasound Beijing Anzhen Hospital Capital Medical University Beijing China

marfan syndrome (MFS)(OMIM 154700) is a relatively common autosomal dominant genetic disease that causes skeletal, ocular, and cardiovascular defects and was first described by a French pediatrician in 1896 (Bitterman and Sponseller, 2017). Its prevalence rate is 1/3000—1/5000, and more than 25% of cases are sporadic (Chiu et al., 2014). Studies have shown that about 90% of MFS is caused by variants in the fibrillin-1 gene (FBN1, OMIM 134797). FBN1, located on chromosome 15q21.1, encodes a macromolecular glycoprotein-fibrin 1, which aggregates to form microfibers in the extracellular matrix and distributes in various human connective tissues, such as periosteum, vessel wall, and crystal suspensor ligament. Variants in FNB1 have been reported in 65 exons, but the relationship between genotype and phenotype remains rather unclear (Sakai et al., 2016). Studies have also shown that patients with MFS and similar diseases may have variants in other related genes such as members of the transforming growth factor beta receptor (TGFBR) family (Mizuguchi et al., 2004;Sakai et al., 2006;Bolar et al., 2012;De Cario et al., 2018). For better prevention and treatment of MFS as well as for suspected MFS patients, there is a strong need for efficient genetic testing for early diagnosis and differential diagnoses of patients with related phenotypes (Aubart et al., 2018).

关键词： marfan syndrome (MFS) cardiovascular defects French pediatrician

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A novel mutation in FBN1 gene in autosomal dominant marfan syndrome and macular degeneration in a Chinese consanguineous family

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International Journal of Ophthalmology(English edition) 2019年第5期12卷 725-730页

作者： Ping-Bo Ouyang Yuan Zhao Ying-Qian Peng Lu-Si Zhang Jian Cao Yun Li Department of Ophthalmology the Second Xiangya Hospital of Central South University Hunan Clinical Research Center of Ophthalmic Disease Department of Cardiovascular Surgery the Second Xiangya Hospital of Central South University

AIM: To report a novel mutation in FBN1 gene in a Chinese consanguineous family with common marfan syndrome(MFS) phenotype and an unusual bilateral macular degeneration. METHODS: Ophthalmic, cardiovascular and systemic examinations were performed, and genomic DNA extracted from all living family members. The 24-32 exon mutations of FBN1 gene were screened by Sanger Sequencing in all family members and 100 unrelated healthy Chinese individuals. RESULTS: In the four-generation family, classic MFS phenotypes were observed in all 5 patients, 2 of them had peculiar phenotype of bilateral macular degeneration. Mutation screening in FBN1 identified a heterozygous missense mutation(c.3932 A>G, p.Y1311 C) with co-segregation. This mutation was found with the MFS phenotypes in all 5 patients but not in unaffected members or unrelated controls. CONCLUSION: A Chinese consanguineous MFS family with uncommon bilateral macular degeneration and an unreported c.3932 A>G mutation in FBN1 was identified. Our finding expands the FBN1 mutation spectrum and its possible role in the pathogenesis of marfan syndrome.

关键词： marfan syndrome fibrillin-1 autosomal dominant heterozygous mutation

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A novel TGFBR2 gene mutation of type 2 marfan syndrome in a Chinese family

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中国循环杂志 2018年第S1期33卷 124-125页

作者： Ying Zhang Lin Zhang Peng Fan Kunqi Yang Xianliang Zhou Department of Cardiology National Center for Cardiovascular DiseasesFuwai HospitalCAMS and PUMCBeijingChina

Objective To report the clinical features and the screening Results of the pathogenic gene in type 2 marfan syndrome patients,and the relationship between the transmembrane domain of TGFBR2 gene and the clinical *** The FBN1 and TGFBR2 genes were sequenced in the genomic DNA by Sanger sequence of type 2 marfan syndrome pedigrees,and the protein structure prediction and genotype phenotypic analysis of the TGFBR2 gene transmembrane domain termination mutation were carried out.

关键词： clinical features type 2 marfan syndrome patients TGFBR2

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Identification of a fibrillin-1 gene mutation in a Chinese marfan syndrome family

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中国循环杂志 2018年第S1期33卷 140-141页

作者： Peng Fan Sufang Hao Kunqi Yang Peipei Lu Ying Zhang Xu Meng Xianliang Zhou Department of Cardiology National Center for Cardiovascular DiseasesFuwai HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina

Background and Objective marfan syndrome,a variable and heritable disorder of fibrous connective tissue,characterized by affecting skeletal,ocular and cardiovascular *** the research advancement of genetic mechanism,the diagnosis of marfan syndrome,based on clinical manifestations and genetic evidence,is more *** aim of this study is identification of genetic pathogenesis in a Chinese family.

关键词： fibrillin-1 gene mutation Chinese marfan syndrome family genetic pathogenesis

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marfan综合征超声表现1例

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中国超声医学杂志 2008年第S1期 105-106页

作者：梁丽张建蕾延安市人民医院B超室

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marfan综合征610例遗传学探讨

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中华医学遗传学杂志 1990年第4期 241-242页

作者：张开滋孙启斌王伟李树林张子彬陆炳新全国麻风病防治中心哈尔滨医科大学附一院滨州医学院附属医院丹东市第一人民医院

marfan综合征(MS)是一种遗传性结缔组织病,主要累及骨骼、眼及心血管系统。我们综合自己病例并收集国内1951～1988年间报告的610例进行了综合分析。在资料完整的514例中,骨骼异常为494例,占

关键词：综合征家系综合病症家族亲缘关系多效性外显率 marfan 遗传学心血管染色体检查

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Structural defects in fibrillin associated with marfan syndrome

Structural defects in fibrillin associated with Marfan syndr...

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第十七届国际生物物理大会;第十二届中国生物物理大会

作者： Richmond Jeremy Murat Kekic Brett Hambly Central Clinical School and Royal Prince Alfred Hospital University of SydneyAustralia Discipline of Pathology and Bosch Institute University of SydneyAustralia

Fibrillin is a 350kDa calcium-binding glycoprotein that is vital for the formation of elastic and non-elastic fibres in connective *** is secreted into the extracellular matrix by fibroblasts and becomes incorporated into insoluble microfibrils,which provide a scaffold for deposition of ***-1(FBN1) also interacts with latent transforming growth factor-p binding proteins and controls TGF-P bioavailability Mutations in fibrillin

关键词： Fibrillin marfan TGFb Microfibril EGF domain

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马凡(marfan)氏综合征——1例多病变、多畸形尸检报告

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北京医学 1991年第6期 377-385页

作者：张建中中国人民解放军总后医专病理教研室

患者,男,17岁。自1981年以来,走路、轻体力活动后感心慌、气急、纳差、乏力,无诱因右膝关节痛,双下肢浮肿、腹胀、尿少。近期畏寒、发烧、多汗,体温41℃,右侧胸痛。1984年4月11日以先心病、心衰入院。家中兄姐无此征。检查:体温38.6℃,... 详细信息

患者,男,17岁。自1981年以来,走路、轻体力活动后感心慌、气急、纳差、乏力,无诱因右膝关节痛,双下肢浮肿、腹胀、尿少。近期畏寒、发烧、多汗,体温41℃,右侧胸痛。1984年4月11日以先心病、心衰入院。家中兄姐无此征。检查:体温38.6℃,脉搏110次,血压24.0/?kpa(180/?mmHg),呼吸30次。半卧位,神清,轻度紫绀,前额、颧弓轻

关键词：畸形肺动脉囊状扩张马凡氏综合征 marfan 病变动脉导管开放增厚夹层动脉瘤壁间动脉瘤尸检报告粘液变性

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A superficial siderosis-related transient focal neurological episode in a patient with marfan syndrome

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Chronic Diseases and Translational Medicine 2023年第3期9卷 269-272页

作者： Slaven Pikija Eugen Trinka Pfaff Johannes Andreea Toma Mahdi Safdarian Department of Neurology Neurocritical Care and NeurorehabilitationCentre of Cognitive NeuroscienceChristian Doppler University HospitalParacelsus Medical UniversitySalzburgMember of EpiCARESalzburgAustria Department of Neurology Christian Doppler University HospitalCentre of Cognitive NeuroscienceNeuroscience InstituteParacelsus Medical UniversitySalzburgAustria Karl Landsteiner Institute for Neurorehabilitation and Space Neurology SalzburgAustria Department of Neuroradiology Christian Doppler University HospitalCentre of Cognitive NeuroscienceNeuroradiology InstituteParacelsus Medical UniversitySalzburgAustria

To the Editor,marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in the gene encoding a matrix component of microfibrils;fibrillin-1(FBN1),with an incidence of about 1-3 per 10,000 individuals.2.3 Cardinal manifestations include proximal aortic aneurysm,dislocation of the ocular lens,and long-bone *** ectasia,which is defined as a ballooning or significant widening of the dural sac or neural root sleeves,is also a common finding in these patients,which is reported to present in more than 60%of cases and is considered a major criterion for the clinical diagnosis of this syndrome.

关键词： superficial marfan balloon

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Genotype-phenotype analysis of a novel mutation of FBN1 gene in a Chinese marfan syndrome family

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中国循环杂志 2018年第S1期33卷 125-125页

作者： Ying Zhang Lin Zhang Peng Fan Kunqi Yang Xianliang Zhou Department of Cardiology National Center for Cardiovascular DiseasesFuwai HospitalCAMS and PUMCBeijingChina

Objective causing mutation in a marfan syndrome(MFS)family with a proband,and to establish genotype-phenotype *** Genomic DNA from peripheral blood leukocytes of a Chinese marfan syndrome familial were isolated and screened for fibrillin-1(FBN1)mutations by direct sequencing,and a genotypephenotype study was carried out following a review of the literature on mutations in the searched area.

关键词： marfan syndrome(MFS) FBN1 Chinese marfan syndrome family

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