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














  • Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity.

    abstract:BACKGROUND:Salivary amylase in humans is encoded by the copy variable gene AMY1 in the amylase gene cluster on chromosome 1. Although the role of salivary amylase is well established, the consequences of the copy number variation (CNV) at AMY1 on salivary amylase protein production are less well understood. The amylase...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Carpenter D,Mitchell LM,Armour JA

    更新日期:2017-02-20 00:00:00

  • Conservation of the three-dimensional structure in non-homologous or unrelated proteins.

    abstract::In this review, we examine examples of conservation of protein structural motifs in unrelated or non-homologous proteins. For this, we have selected three DNA-binding motifs: the histone fold, the helix-turn-helix motif, and the zinc finger, as well as the globin-like fold. We show that indeed similar structures exist...

    journal_title:Human genomics

    pub_type: 杂志文章,评审


    authors: Sousounis K,Haney CE,Cao J,Sunchu B,Tsonis PA

    更新日期:2012-08-02 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

  • 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

  • Is the genomic translational pipeline being disrupted?

    abstract::The translational pipeline for genomic medicine has been well defined. However, as with any rapidly changing technology, innovations are difficult to predict leading to the potential to disrupt anticipated translation. Examples of potential disruptors such as laboratory-developed tests, direct-to-consumer testing, and...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Williams MS

    更新日期:2015-06-14 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

  • Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

    abstract:BACKGROUND:Osteogenesis imperfecta (OI) comprises a clinically and genetically heterogeneous group of connective tissue disorders, characterized by low bone mass, increased bone fragility, and blue-gray eye sclera. OI often results from missense mutations in one of the conserved glycine residues present in the Gly-X-Y ...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Maasalu K,Nikopensius T,Kõks S,Nõukas M,Kals M,Prans E,Zhytnik L,Metspalu A,Märtson A

    更新日期:2015-05-10 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

  • 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 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

  • Helicobacter pylori infection, serum pepsinogens as markers of atrophic gastritis, and leukocyte telomere length: a population-based study.

    abstract:BACKGROUND:Persistent infections that induce prolonged inflammation might negatively affect the leukocyte telomere length (LTL); however, the role in LTL of Helicobacter pylori (H. pylori) infection, which persistently colonizes the stomach, remains unknown. The study objective was to examine associations of sero-preva...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Muhsen K,Sinnreich R,Merom D,Nassar H,Cohen D,Kark JD

    更新日期:2019-07-22 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

  • 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

  • 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

  • A novel knowledge-derived data potentizing method revealed unique liver cancer-associated genetic variants.

    abstract:BACKGROUND:Next-generation sequencing (NGS) has been advancing the progress of detection of disease-associated genetic variants and genome-wide profiling of expressed sequences over the past decade. NGS enables the analyses of multiple regions of a genome in a single reaction format and has been shown to be a cost-effe...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Sultana N,Rahman M,Myti S,Islam J,Mustafa MG,Nag K

    更新日期:2019-07-04 00:00:00

  • Genetic variation in neurodegenerative diseases and its accessibility in the model organism Caenorhabditis elegans.

    abstract:BACKGROUND:Neurodegenerative diseases (NGDs) such as Alzheimer's and Parkinson's are debilitating and largely untreatable conditions strongly linked to age. The clinical, neuropathological, and genetic components of NGDs indicate that neurodegeneration is a complex trait determined by multiple genes and by the environm...

    journal_title:Human genomics

    pub_type: 杂志文章,评审


    authors: Wang YA,Kammenga JE,Harvey SC

    更新日期:2017-05-25 00:00:00

  • Mitochondrial DNA as a potential tool for early cancer detection.

    abstract::The recent surge in mitochondrial research has been driven by the identification of mitochondria-associated diseases and the role of mitochondria in apoptosis. Both of these aspects have identified mitochondrial analysis as a vital component of medical research. Moreover, mitochondria have been implicated in the proce...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Parr RL,Dakubo GD,Thayer RE,McKenney K,Birch-Machin MA

    更新日期:2006-01-01 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

  • Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

    abstract:BACKGROUND:Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and molecular basis of a nov...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Alsemari A,Al-Younes B,Goljan E,Jaroudi D,BinHumaid F,Meyer BF,Arold ST,Monies D

    更新日期:2017-11-14 00:00:00

  • Integration of association statistics over genomic regions using Bayesian adaptive regression splines.

    abstract::In the search for genetic determinants of complex disease, two approaches to association analysis are most often employed, testing single loci or testing a small group of loci jointly via haplotypes for their relationship to disease status. It is still debatable which of these approaches is more favourable, and under ...

    journal_title:Human genomics

    pub_type: 杂志文章


    authors: Zhang X,Roeder K,Wallstrom G,Devlin B

    更新日期:2003-11-01 00:00:00

  • State of the art de novo assembly of human genomes from massively parallel sequencing data.

    abstract::Recent studies in human genomes have demonstrated the use of de novo assemblies to identify genetic variations that are difficult for mapping-based approaches. Construction of multiple human genome assemblies is enabled by massively parallel sequencing, but a conventional bioinformatics solution is costly and slow, cr...

    journal_title:Human genomics

    pub_type: 杂志文章,评审


    authors: Li Y,Hu Y,Bolund L,Wang J

    更新日期:2010-04-01 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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