Identification of gross deletions in FBN1 gene by MLPA.


BACKGROUND:Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. Approximately 90% of classic MFS patients have a FBN1 mutation that can be identified by single-gene sequencing or gene-panel sequencing targeting FBN1. However, a small proportion of MFS patients carry a large genomic deletion in FBN1, which cannot be detected by routine sequencing. Here, we performed an MLPA (multiplex ligation-dependent probe amplification) test to detect large deletions and/or duplications in FBN1 and TGFBR2 in 115 unrelated Chinese patients with suspected MFS or early-onset aneurysm/dissection. RESULTS:Five novel large deletions encompassing a single exon or multiple exons in the FBN1 gene were characterized in five unrelated patients, of which four were proven by Sanger sequencing, and the breakpoints were identified. Three of them met the revised Ghent criteria when genetic results were not available, and the other two patients were highly suspected and diagnosed with MFS until the FBN1 deletions were identified. CONCLUSIONS:Our finding expands the mutation spectrum of large FBN1 deletions and emphasizes the importance of screening for large FBN1 deletions in clinical genetic testing, especially for those with classic Marfan phenotype.


Hum Genomics


Human genomics


Yang H,Ma Y,Luo M,Zhao K,Zhang Y,Zhu G,Sun X,Luo F,Wang L,Shu C,Zhou Z




Has Abstract


2018-10-04 00:00:00














  • Novel age-dependent targets in vestibular schwannomas.

    abstract:BACKGROUND:Schwannomas are the most common neurofibromatosis type 2 (NF2)-associated tumors with significant phenotypic heterogeneity in patients. The most severe subtype has an early and rapid progression and the mild type has a later onset and a less aggressive course. The aim of this study was to elucidate the under...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Toren A,Reichardt JK,Andalibi A,Hsu NY,Doherty J,Slattery W,Mehrian-Shai R

    更新日期:2014-06-30 00:00:00

  • In silico toxicology models and databases as FDA Critical Path Initiative toolkits.

    abstract::In silico toxicology methods are practical, evidence-based and high throughput, with varying accuracy. In silico approaches are of keen interest, not only to scientists in the private sector and to academic researchers worldwide, but also to the public. They are being increasingly evaluated and applied by regulators. ...

    journal_title:Human genomics

    pub_type: 杂志文章,评审


    authors: Valerio LG Jr

    更新日期:2011-03-01 00:00:00

  • Associations between microRNA (miR-25, miR-32, miR-125, and miR-222) polymorphisms and recurrent implantation failure in Korean women.

    abstract:BACKGROUND:Recurrent implantation failure (RIF) is the failure of embryos to implant more than two times in a given individual. There is debate about a precise definition for RIF, but we consider more than two implantation failures for individuals who undergo in vitro fertilization-embryo transfer (IVF-ET) to constitut...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Lee JY,Ahn EH,Kim JO,Park HS,Ryu CS,Kim JH,Kim YR,Lee WS,Kim NK

    更新日期:2019-12-16 00:00:00

  • Genome-wide approaches to understanding human ageing.

    abstract::The use of genomic technologies in biogerontology has the potential to greatly enhance our understanding of human ageing. High-throughput screens for alleles correlated with survival in long-lived people have uncovered novel genes involved in age-associated disease. Genome-wide longevity studies in simple eukaryotes a...

    journal_title:Human genomics

    pub_type: 杂志文章,评审


    authors: Kaeberlein M

    更新日期:2006-06-01 00:00:00

  • Preimplantation genetic diagnosis and screening (PGD/S) using a semiconductor sequencing platform.

    abstract:BACKGROUND:Recent advances in semiconductor sequencing platform (SSP) have provided new methods for preimplantation genetic diagnosis/screening (PGD/S). The present study aimed to evaluate the applicability and efficiency of SSP in PGD/S. METHODS:The artificial positive single-cell-like DNAs and normal single-cell sam...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Wang LY,Rao XQ,Luo YQ,Liu B,Peng CF,Chen D,Yan K,Qian YQ,Yang YM,Huang YZ,Chen M,Sun YX,Li HG,Ye YH,Jin F,Liu HL,Dong MY

    更新日期:2019-01-03 00:00:00

  • Exploration of CYP21A2 and CYP17A1 polymorphisms and preeclampsia risk among Chinese Han population: a large-scale case-control study based on 5021 subjects.

    abstract:BACKGROUND:Several genome-wide association studies have identified single-nucleotide polymorphisms (SNPs), such as rs4409766, rs1004467, and rs3824755 in CYP17A1 and rs2021783 in CYP21A2, as new hypertension susceptibility genetic variants in the Chinese population. This study aimed to look into the relationship betwee...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Hou B,Jia X,Deng Z,Liu X,Liu H,Yu H,Liu S

    更新日期:2020-09-25 00:00:00

  • Ensemble genomic analysis in human lung tissue identifies novel genes for chronic obstructive pulmonary disease.

    abstract:BACKGROUND:Genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) significantly associated with chronic obstructive pulmonary disease (COPD). However, many genetic variants show suggestive evidence for association but do not meet the strict threshold for genome-wide significance. ...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Morrow JD,Cho MH,Platig J,Zhou X,DeMeo DL,Qiu W,Celli B,Marchetti N,Criner GJ,Bueno R,Washko GR,Glass K,Quackenbush J,Silverman EK,Hersh CP

    更新日期:2018-01-15 00:00:00

  • Identify Down syndrome transcriptome associations using integrative analysis of microarray database and correlation-interaction network.

    abstract:BACKGROUND:Long non-coding RNAs (lncRNAs) have previously been emerged as key players in a series of biological processes. Dysregulation of lncRNA is correlated to human diseases including neurological disorders. Here, we developed a multi-step bioinformatics analysis to study the functions of a particular Down syndrom...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Chen M,Wang J,Luo Y,Huang K,Shi X,Liu Y,Li J,Lai Z,Xue S,Gao H,Chen A,Chen D

    更新日期:2018-01-19 00:00:00

  • Do epigenetic changes caused by commensal microbiota contribute to development of ocular disease? A review of evidence.

    abstract::There is evidence that genetic polymorphisms and environmentally induced epigenetic changes play an important role in modifying disease risk. The commensal microbiota has the ability to affect the cellular environment throughout the body without requiring direct contact; for example, through the generation of a pro-in...

    journal_title:Human genomics

    pub_type: 杂志文章,评审


    authors: Nayyar A,Gindina S,Barron A,Hu Y,Danias J

    更新日期:2020-03-13 00:00:00

  • The other lives of ribosomal proteins.

    abstract::Despite the fact that ribosomal proteins are the constituents of an organelle that is present in every cell, they show a surprising level of regulation, and several of them have also been shown to have other extra-ribosomal functions, such in replication, transcription, splicing or even ageing. This review provides a ...

    journal_title:Human genomics

    pub_type: 杂志文章,评审


    authors: Bhavsar RB,Makley LN,Tsonis PA

    更新日期:2010-06-01 00:00:00

  • K-Map: connecting kinases with therapeutics for drug repurposing and development.

    abstract:UNLABELLED:Protein kinases play important roles in regulating signal transduction in eukaryotic cells. Due to evolutionary conserved binding sites in the catalytic domain of the kinases, most inhibitors that target these sites promiscuously inhibit multiple kinases. Quantitative analysis can reveal complex and unexpect...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Kim J,Yoo M,Kang J,Tan AC

    更新日期:2013-09-23 00:00:00

  • The X chromosome and sex-specific effects in infectious disease susceptibility.

    abstract::The X chromosome and X-linked variants have largely been ignored in genome-wide and candidate association studies of infectious diseases due to the complexity of statistical analysis of the X chromosome. This exclusion is significant, since the X chromosome contains a high density of immune-related genes and regulator...

    journal_title:Human genomics

    pub_type: 杂志文章,评审


    authors: Schurz H,Salie M,Tromp G,Hoal EG,Kinnear CJ,Möller M

    更新日期:2019-01-08 00:00:00

  • Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides.

    abstract::The cytosine-guanine (CpG) dinucleotide has long been known to be a hotspot for pathological mutation in the human genome. This hypermutability is related to its role as the major site of cytosine methylation with the attendant risk of spontaneous deamination of 5-methylcytosine (5mC) to yield thymine. Cytosine methyl...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Cooper DN,Mort M,Stenson PD,Ball EV,Chuzhanova NA

    更新日期:2010-08-01 00:00:00

  • Pharmacogenetics of antidepressant response: an update.

    abstract::The past few decades have witnessed much progress in the field of pharmacogenetics. The identification of the genetic background that regulates the antidepressant response has benefited from these advances. This review focuses on the pharmacogenetics of the antidepressant response through the analysis and discussion o...

    journal_title:Human genomics

    pub_type: 杂志文章,评审


    authors: Drago A,De Ronchi D,Serretti A

    更新日期:2009-04-01 00:00:00

  • Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.

    abstract:BACKGROUND:Whole-exome sequencing (WES) over the last few years has been increasingly employed for clinical diagnosis. However, one caveat with its use is that it inevitably fails to detect disease-causative variants that occur within noncoding RNA genes. Our experience in identifying pathogenic variants in the noncodi...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Wang Y,Wu X,Du L,Zheng J,Deng S,Bi X,Chen Q,Xie H,Férec C,Cooper DN,Luo Y,Fang Q,Chen JM

    更新日期:2018-01-25 00:00:00

  • Transcriptome analysis reveals manifold mechanisms of cyst development in ADPKD.

    abstract:BACKGROUND:Autosomal dominant polycystic kidney disease (ADPKD) causes progressive loss of renal function in adults as a consequence of the accumulation of cysts. ADPKD is the most common genetic cause of end-stage renal disease. Mutations in polycystin-1 occur in 87% of cases of ADPKD and mutations in polycystin-2 are...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: de Almeida RM,Clendenon SG,Richards WG,Boedigheimer M,Damore M,Rossetti S,Harris PC,Herbert BS,Xu WM,Wandinger-Ness A,Ward HH,Glazier JA,Bacallao RL

    更新日期:2016-11-21 00:00:00

  • Chromosomal phenotypes and submicroscopic abnormalities.

    abstract::The finding, during the last decade, that several common, clinically delineated syndromes are caused by submicroscopic deletions or, more rarely, by duplications, has provided a powerful tool in the annotation of the human genome. Since most microdeletion/microduplication syndromes are defined by a common deleted/dupl...

    journal_title:Human genomics

    pub_type: 杂志文章,评审


    authors: Devriendt K,Vermeesch JR

    更新日期:2004-01-01 00:00:00

  • Delineating significant genome-wide associations of variants with antipsychotic and antidepressant treatment response: implications for clinical pharmacogenomics.

    abstract:BACKGROUND:Genome-wide association studies (GWAS) have significantly contributed to the association of many clinical conditions and phenotypic characteristics with genomic variants. The majority of these genomic findings have been deposited to the GWAS catalog. So far, findings uncovering associations of single nucleot...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Koromina M,Koutsilieri S,Patrinos GP

    更新日期:2020-01-15 00:00:00

  • A review of the 'Statistical Analysis for Genetic Epidemiology' (S.A.G.E.) software package.

    abstract::The 'Statistical Analysis for Genetic Epidemiology' (S.A.G.E.) software package is an integrated, comprehensive package of computer programs designed to perform many of the different analyses required in the study of genetic epidemiology. It offers a graphical user interface for most platforms and, unlike many program...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Elston RC,Gray-McGuire C

    更新日期:2004-11-01 00:00:00

  • Mitochondrial and nuclear genomics and the emergence of personalized medicine.

    abstract::Developing early detection biosensors for disease has been the long‒held goal of the Human Genome Project, but with little success. Conversely, the biological properties of the mitochondrion coupled with the relative simplicity of the mitochondrial genome give this organelle extraordinary functionality as a biosensor ...

    journal_title:Human genomics

    pub_type: 杂志文章,评审


    authors: Parr RL,Martin LH

    更新日期:2012-07-05 00:00:00

  • Identification of functional single nucleotide polymorphisms in the branchpoint site.

    abstract:BACKGROUND:The human genome contains millions of single nucleotide polymorphisms (SNPs); many of these SNPs are intronic and have unknown functional significance. SNPs occurring within intron branchpoint sites, especially at the adenine (A), would presumably affect splicing; however, this has not been systematically st...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Chiang HL,Wu JY,Chen YT

    更新日期:2017-11-09 00:00:00

  • Whole-genome approach implicates CD44 in cellular resistance to carboplatin.

    abstract::Carboplatin is a chemotherapeutic agent used in the management of many cancers, yet treatment is limited by resistance and toxicities. To achieve a better understanding of the genetic contribution to carboplatin resistance or toxicities, lymphoblastoid cell lines from 34 large Centre d'Etude du Polymorphisme Humain pe...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Shukla SJ,Duan S,Wu X,Badner JA,Kasza K,Dolan ME

    更新日期:2009-01-01 00:00:00

  • Update of human and mouse matrix metalloproteinase families.

    abstract::Matrix metalloproteinases (MMPs) are a family of zinc proteases that degrade most of the components of the extracellular matrix (ECM). MMPs also have a number of non-traditional roles in processing factors related to cell growth/proliferation, inflammation and more. There are 23 human MMPs and 23 mouse MMPs, most of w...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Jackson BC,Nebert DW,Vasiliou V

    更新日期:2010-02-01 00:00:00

  • Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration.

    abstract::Predictive tests for estimating the risk of developing late-stage neovascular age-related macular degeneration (AMD) are subject to unique challenges. AMD prevalence increases with age, clinical phenotypes are heterogeneous and control collections are prone to high false-negative rates, as many control subjects are li...

    journal_title:Human genomics

    pub_type: 杂志文章,多中心研究


    authors: Hageman GS,Gehrs K,Lejnine S,Bansal AT,Deangelis MM,Guymer RH,Baird PN,Allikmets R,Deciu C,Oeth P,Perlee LT

    更新日期:2011-07-01 00:00:00

  • Major influence of repetitive elements on disease-associated copy number variants (CNVs).

    abstract::Copy number variants (CNVs) are important contributors to the human pathogenic genetic diversity as demonstrated by a number of cases reported in the literature. The high homology between repetitive elements may guide genomic stability which will give rise to CNVs either by non-allelic homologous recombination (NAHR) ...

    journal_title:Human genomics

    pub_type: 杂志文章,评审


    authors: Cardoso AR,Oliveira M,Amorim A,Azevedo L

    更新日期:2016-09-23 00:00:00

  • Update on the aldehyde dehydrogenase gene (ALDH) superfamily.

    abstract::Members of the aldehyde dehydrogenase gene (ALDH) superfamily play an important role in the enzymic detoxification of endogenous and exogenous aldehydes and in the formation of molecules that are important in cellular processes, like retinoic acid, betaine and gamma-aminobutyric acid. ALDHs exhibit additional, non-enz...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Jackson B,Brocker C,Thompson DC,Black W,Vasiliou K,Nebert DW,Vasiliou V

    更新日期:2011-05-01 00:00:00

  • Genome-wide identification of genetic determinants for the cytotoxicity of perifosine.

    abstract::Perifosine belongs to the class of alkylphospholipid analogues, which act primarily at the cell membrane, thereby targeting signal transduction pathways. In phase I/II clinical trials, perifosine has induced tumour regression and caused disease stabilisation in a variety of tumour types. The genetic determinants respo...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Zhang W,Liu W,Poradosu E,Ratain MJ

    更新日期:2008-09-01 00:00:00

  • A useful tool for drug interaction evaluation: the University of Washington Metabolism and Transport Drug Interaction Database.

    abstract::The Metabolism and Transport Drug Interaction Database ( is a web-based research and analysis tool developed in the Department of Pharmaceutics at the University of Washington. The database has the largest manually curated collection of data related to drug interactions in humans. Th...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Hachad H,Ragueneau-Majlessi I,Levy RH

    更新日期:2010-10-01 00:00:00

  • Software for tag single nucleotide polymorphism selection.

    abstract::This paper reviews the theoretical basis for single nucleotide polymorphism (SNP) tagging and considers the use of current software made freely available for this task. A distinction between haplotype block-based and non-block-based approaches yields two classes of procedures. Analysis of two different sets of SNP gen...

    journal_title:Human genomics

    pub_type: 杂志文章,评审


    authors: Stram DO

    更新日期:2005-06-01 00:00:00

  • Informed consent and ethical re-use of African genomic data.

    abstract::Rapid advances in human genomic research are increasing the availability of genomic data for secondary analysis. Particularly in the case of vulnerable African populations, ethics and informed consent processes need to be transparent--both to ensure participant protection, as well as to share skills and to evolve best...

    journal_title:Human genomics

    pub_type: 信件


    authors: Wright GE,Adeyemo AA,Tiffin N

    更新日期:2014-10-22 00:00:00