MEFV mutations in Behçet's disease.


:Familial Mediterranean fever (FMF) and Behçet's disease (BD), both inflammatory diseases, are highly prevalent in the Middle Eastern and Mediterranean populations. FMF is a Mendelian autosomic recessive disease linked to MEFV, a gene of unknown function. BD in contrast is a polyfactorial disease associated with the major histocompatibility complex. Because FMF and BD have epidemiological similarities, we asked whether the FMF gene was implicated in BD. We screened for the common MEFV mutations a cohort of 114 chromosomes from definite BD patients [meeting the criteria of the International study group] and probable cases [meeting at least two of these criteria]. We screened in parallel an ethnically matched cohort of FMF and control chromosomes. The M694V, V726A and E148Q mutations tended to be more frequent in definite BD (2.6%, 2.6%, and 5.2%, respectively) than in controls (0%, 0%, and 2.2%). The P706 polymorphism was found in 10.5% of the probable BD chromosomes, but in only 1.6% of the controls (p=0.01). Because some MEFV mutations were more frequent in BD than in controls, we suggest that they may act as additional susceptibility factors in BD.


Hum Mutat


Human mutation


Touitou I,Magne X,Molinari N,Navarro A,Quellec AL,Picco P,Seri M,Ozen S,Bakkaloglu A,Karaduman A,Garnier JM,Demaille J,Koné-Paut I





Has Abstract


2000-09-01 00:00:00














  • New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormone.

    abstract::Two years after the first mutation on exon 7 in the carboxy-terminal part of the hinge domain (D) was reported (Behr and Loos 1992), we have identified the second mutation on exon 7 in patients with GRTH. Interestingly, our mutation it is not located in the two previously described "hot spot regions", but instead very...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Pohlenz J,Schönberger W,Wemme H,Winterpacht A,Wirth S,Zabel B

    更新日期:1996-01-01 00:00:00

  • Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.

    abstract::Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, contractures, and scoliosis. Recent reports also mention aortic root dilatation, a finding previously thought to differentiate the condition from...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: Callewaert BL,Loeys BL,Ficcadenti A,Vermeer S,Landgren M,Kroes HY,Yaron Y,Pope M,Foulds N,Boute O,Galán F,Kingston H,Van der Aa N,Salcedo I,Swinkels ME,Wallgren-Pettersson C,Gabrielli O,De Backer J,Coucke PJ,De Paep

    更新日期:2009-03-01 00:00:00

  • CAGI 5 splicing challenge: Improved exon skipping and intron retention predictions with MMSplice.

    abstract::Pathogenic genetic variants often primarily affect splicing. However, it remains difficult to quantitatively predict whether and how genetic variants affect splicing. In 2018, the fifth edition of the Critical Assessment of Genome Interpretation proposed two splicing prediction challenges based on experimental perturb...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Cheng J,Çelik MH,Nguyen TYD,Avsec Ž,Gagneur J

    更新日期:2019-09-01 00:00:00

  • Identification and characterization of a novel RPGR isoform in human retina.

    abstract::Retinitis pigmentosa (RP) constitutes a major cause of blindness and the Retinitis Pigmentosa GTPase Regulator (RPGR) gene accounts for up to 80% of all X-linked RP cases. A novel isoform of RPGR, expressed in the human retina, was identified and characterized. It truncates the Regulator of Chromosome Condensation 1 (...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Neidhardt J,Glaus E,Barthelmes D,Zeitz C,Fleischhauer J,Berger W

    更新日期:2007-08-01 00:00:00

  • Clinically relevant variants - identifying, collecting, interpreting, and disseminating: the 2013 annual scientific meeting of the Human Genome Variation Society.

    abstract::The dramatic advances in genetic sequencing technologies used in research laboratories are now entering the clinic, and applications of whole-genome and whole-exome sequencing to disease diagnosis, predisposition, and treatment will soon be commonplace. However, the standards and methods for identifying clinically rel...

    journal_title:Human mutation



    authors: Stanley CM,Sunyaev SR,Greenblatt MS,Oetting WS

    更新日期:2014-04-01 00:00:00

  • Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia.

    abstract::Mutations in the ribosomal protein (RP)S19 gene have been found in about 25% of the cases of Diamond-Blackfan anemia (DBA), a rare congenital hypoplastic anemia that includes variable physical malformations. Various mutations have been identified in the RPS19 gene, but no investigations regarding the effect of these a...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Chatr-Aryamontri A,Angelini M,Garelli E,Tchernia G,Ramenghi U,Dianzani I,Loreni F

    更新日期:2004-12-01 00:00:00

  • Determination of haplotypes from single DNA molecules: a method for single-molecule barcoding.

    abstract::Determining the haplotypes in a diploid individual is a major technical challenge in genetic studies of human complex traits. Here we report a method of molecular haplotyping by directly imaging multiple polymorphic sites on individual DNA molecules simultaneously. DNA fragments amplified by long-range PCR were labele...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Xiao M,Gordon MP,Phong A,Ha C,Chan TF,Cai D,Selvin PR,Kwok PY

    更新日期:2007-09-01 00:00:00

  • Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations.

    abstract::Hereditary hemorrhagic telangiectasia (HHT), or Osler-Rendu-Weber syndrome, is a heterogeneous inherited disorder characterized by multi-systemic vascular dysplasia and wide variation in its phenotypic expression. Hepatic manifestation is seen in about 8 to 30 % of the patients. The molecular basis for liver involveme...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Kuehl HK,Caselitz M,Hasenkamp S,Wagner S,El-Harith el-HA,Manns MP,Stuhrmann M

    更新日期:2005-03-01 00:00:00

  • Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients.

    abstract::The identification and interpretation of germline BRCA1/2 variants become increasingly important in breast and ovarian cancer (OC) treatment. However, there is no comprehensive analysis of the germline BRCA1/2 variants in a Chinese population. Here we performed a systematic review and meta-analysis on such variants fr...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Gao X,Nan X,Liu Y,Liu R,Zang W,Shan G,Gai F,Zhang J,Li L,Cheng G,Song L

    更新日期:2020-03-01 00:00:00

  • BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.

    abstract::Bardet Biedl syndrome is a genetically heterogeneous ciliopathy with fourteen genes currently identified. To date, mutations in BBS7 and TTC8 (BBS8) were reported in 4.2% and 2.8% of BBS families respectively. We sequenced the coding regions of BBS7 and TTC8 in 35 BBS families of diverse ancestral backgrounds. In addi...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Bin J,Madhavan J,Ferrini W,Mok CA,Billingsley G,Héon E

    更新日期:2009-07-01 00:00:00

  • WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.

    abstract::Wolfram syndrome (WS) is the inherited association of juvenile-onset insulin-dependant diabetes mellitus and progressive bilateral optic atrophy. A nuclear gene, WFS1/wolframin, was identified that segregated with disease status and demonstrated an autosomal recessive mode of inheritance. Mutation analysis of the WFS1...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: Khanim F,Kirk J,Latif F,Barrett TG

    更新日期:2001-05-01 00:00:00

  • Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.

    abstract::We report the largest international study on Glanzmann thrombasthenia (GT), an inherited bleeding disorder where defects of the ITGA2B and ITGB3 genes cause quantitative or qualitative defects of the αIIbβ3 integrin, a key mediator of platelet aggregation. Sequencing of the coding regions and splice sites of both gene...

    journal_title:Human mutation

    pub_type: 杂志文章,多中心研究


    authors: Nurden AT,Pillois X,Fiore M,Alessi MC,Bonduel M,Dreyfus M,Goudemand J,Gruel Y,Benabdallah-Guerida S,Latger-Cannard V,Négrier C,Nugent D,Oiron RD,Rand ML,Sié P,Trossaert M,Alberio L,Martins N,Sirvain-Trukniewicz P,Co

    更新日期:2015-05-01 00:00:00

  • The novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome.

    abstract::A subset of a larger and heterogeneous class of disorders, the congenital myasthenic syndromes (CMS) are caused by pathogenic variants in genes encoding proteins that support the integrity and function of the neuromuscular junction (NMJ). A central component of the NMJ is the sodium-dependent high-affinity choline tra...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Banerjee M,Arutyunov D,Brandwein D,Janetzki-Flatt C,Kolski H,Hume S,Leonard NJ,Watt J,Lacson A,Baradi M,Leslie EM,Cordat E,Caluseriu O

    更新日期:2019-10-01 00:00:00

  • IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.

    abstract::IL-12Rβ1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12Rβ1 is a receptor chain of both the IL-12 and the IL-23 receptor and deficiency of IL-12Rβ1 thus abolishes both IL-12 and ...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: van de Vosse E,Haverkamp MH,Ramirez-Alejo N,Martinez-Gallo M,Blancas-Galicia L,Metin A,Garty BZ,Sun-Tan Ç,Broides A,de Paus RA,Keskin Ö,Çağdaş D,Tezcan I,Lopez-Ruzafa E,Aróstegui JI,Levy J,Espinosa-Rosales FJ,Sanal Ö,

    更新日期:2013-10-01 00:00:00

  • Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers.

    abstract::Neurofibromatosis type 1 (NF1), an autosomal dominantly-inherited disorder, is mainly characterized by the occurrence of multiple dermal neurofibromas and is caused by mutations in the NF1 gene, a tumor suppressor gene. The variable expressivity of the disease and the lack of a genotype/phenotype correlation prevents ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Wiest V,Eisenbarth I,Schmegner C,Krone W,Assum G

    更新日期:2003-12-01 00:00:00

  • Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.

    abstract::Aminoacyl-tRNA synthetases (ARSs) canonical function is to conjugate specific amino acids to cognate tRNA that are required for the first step of protein synthesis. Genetic mutations that cause dysfunction or absence of ARSs result in various neurodevelopmental disorders. The human phenylalanine-tRNA synthetase (PheRS...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Zadjali F,Al-Yahyaee A,Al-Nabhani M,Al-Mubaihsi S,Gujjar A,Raniga S,Al-Maawali A

    更新日期:2018-10-01 00:00:00

  • Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies.

    abstract::Age-related macular degeneration (AMD) is the most common cause of incurable visual impairment in high-income countries. Previous studies report inconsistent associations between AMD and apolipoprotein E (APOE), a lipid transport protein involved in low-density cholesterol modulation. Potential interaction between APO...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: McKay GJ,Patterson CC,Chakravarthy U,Dasari S,Klaver CC,Vingerling JR,Ho L,de Jong PT,Fletcher AE,Young IS,Seland JH,Rahu M,Soubrane G,Tomazzoli L,Topouzis F,Vioque J,Hingorani AD,Sofat R,Dean M,Sawitzke J,Seddon

    更新日期:2011-12-01 00:00:00

  • Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.

    abstract::MUSK encodes the muscle-specific receptor tyrosine kinase (MuSK), a key component of the agrin-LRP4-MuSK-DOK7 signaling pathway, which is essential for the formation and maintenance of highly specialized synapses between motor neurons and muscle fibers. We report a patient with severe early-onset congenital myasthenic...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Rodríguez Cruz PM,Cossins J,Cheung J,Maxwell S,Jayawant S,Herbst R,Waithe D,Kornev AP,Palace J,Beeson D

    更新日期:2020-03-01 00:00:00

  • Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

    abstract::Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurological disease with mutations in SACS, encoding sacsin, a multidomain protein of 4,579 amino acids. The large size of SACS and its translated protein has hindered biochemical analysis of ARSACS, and how mutant sacsins lead to disease remains...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Romano A,Tessa A,Barca A,Fattori F,de Leva MF,Terracciano A,Storelli C,Santorelli FM,Verri T

    更新日期:2013-03-01 00:00:00

  • p53 website and analysis of p53 gene mutations in human cancer: forging a link between epidemiology and carcinogenesis.

    abstract::The p53 tumor suppressor gene has proven to be one of the genes most often mutated in human cancers. It involves mainly point mutations leading to amino acid substitutions in the central region of the protein which impairs normal functions. Analysis of the mutational events that target the p53 gene has revealed eviden...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Soussi T,Dehouche K,Béroud C

    更新日期:2000-01-01 00:00:00

  • Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.

    abstract::We describe progressive spastic paraparesis in two male siblings and the daughter of one of these individuals. Onset of disease occurred within the first decade, with stiffness and gait difficulties. Brisk deep tendon reflexes and extensor plantar responses were present, in the absence of intellectual disability or de...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Ruaud L,Rice GI,Cabrol C,Piard J,Rodero M,van Eyk L,Boucher-Brischoux E,de Noordhout AM,Maré R,Scalais E,Pauly F,Debray FG,Dobyns W,Uggenti C,Park JW,Hur S,Livingston JH,Crow YJ,Van Maldergem L

    更新日期:2018-08-01 00:00:00

  • Systematic evaluation of the effect of common SNPs on pre-mRNA splicing.

    abstract::The evolutionary and biomedical importance of differential mRNA splicing is well established. Numerous studies have assessed patterns of differential splicing in different genes and correlated these patterns to the genotypes for adjacent single-nucleotide polymorphisms (SNPs). Here, we have chosen a reverse approach a...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: ElSharawy A,Hundrieser B,Brosch M,Wittig M,Huse K,Platzer M,Becker A,Simon M,Rosenstiel P,Schreiber S,Krawczak M,Hampe J

    更新日期:2009-04-01 00:00:00

  • Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

    abstract::Classical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Greber-Platzer S,Guldberg P,Scheibenreiter S,Item C,Schuller E,Patel N,Strobl W

    更新日期:1997-01-01 00:00:00

  • Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.

    abstract::Haemophilia A is a X-linked bleeding disorder, caused by deficiency in the activity of coagulation factor VIII due to mutations in the corresponding gene. The most common defect in patients is an inversion of the factor VIII gene that accounts for nearly 45% of individuals with severe hemophilia A. Point mutations and...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Bogdanova N,Lemcke B,Markoff A,Pollmann H,Dworniczak B,Eigel A,Horst J

    更新日期:2001-12-01 00:00:00

  • A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity.

    abstract::Recessively inherited limb girdle muscular dystrophy (LGMD) type 2A is the most common LGMD worldwide. Here, we report the first single missense variant in CAPN3 causing dominantly inherited calpainopathy. A 43-year-old proband, his father and two sons were heterozygous for a c.1715G>C p.(Arg572Pro) variant in CAPN3. ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Vissing J,Dahlqvist JR,Roudaut C,Poupiot J,Richard I,Duno M,Krag T

    更新日期:2020-09-01 00:00:00

  • Homeologous recombination between AluSx-sequences as a cause of hemophilia.

    abstract::Although large deletions from the coagulation factor VIII gene, F8, are responsible for 5% of severe hemophilia A (seHA), few of them have been fully characterised. A detailed description of a large partial deletion of the F8 caused by unequal recombination between homeologous AluSx-derived sequences is presented. The...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Rossetti LC,Goodeve A,Larripa IB,De Brasi CD

    更新日期:2004-11-01 00:00:00

  • Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy.

    abstract::Leber hereditary optic neuropathy (LHON) is a maternally inherited eye disease most commonly caused by mitochondrial DNA (mtDNA) point mutation at position 11778, 3460, or 14484. Approximately 14% of families show heteroplasmy for the pathogenic mutations but little is known about the mutational burden in different ti...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Juvonen V,Nikoskelainen E,Lamminen T,Penttinen M,Aula P,Savontaus ML

    更新日期:1997-01-01 00:00:00

  • Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.

    abstract::MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in MYH9, the gene for the heavy chain of nonmuscle myosin IIA (NMMHC-IIA). All patients present from birth with macrothrombocytopenia, but in infancy or adult life, some of them develop sensorineural deafness, presenile cataracts,...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Pecci A,Panza E,Pujol-Moix N,Klersy C,Di Bari F,Bozzi V,Gresele P,Lethagen S,Fabris F,Dufour C,Granata A,Doubek M,Pecoraro C,Koivisto PA,Heller PG,Iolascon A,Alvisi P,Schwabe D,De Candia E,Rocca B,Russo U,Rameng

    更新日期:2008-03-01 00:00:00

  • Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.

    abstract::The ClinGen PTEN Expert Panel was organized by the ClinGen Hereditary Cancer Clinical Domain Working Group to assemble clinicians, researchers, and molecular diagnosticians with PTEN expertise to develop specifications to the 2015 ACMG/AMP Sequence Variant Interpretation Guidelines for PTEN variant interpretation. We ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Mester JL,Ghosh R,Pesaran T,Huether R,Karam R,Hruska KS,Costa HA,Lachlan K,Ngeow J,Barnholtz-Sloan J,Sesock K,Hernandez F,Zhang L,Milko L,Plon SE,Hegde M,Eng C

    更新日期:2018-11-01 00:00:00

  • Two novel mutations consisting in minor gene rearrangements in the human low density lipoprotein receptor gene in Italian patients affected by familial hypercholesterolemia. Mutations in brief no. 194. Online.

    abstract::Mutations in the low density lipoprotein (LDL)-receptor gene cause familial hypercholesterolemia (FH), an autosomal dominant disease associated to an increased risk of premature atherosclerosis. We describe two novel mutations found in Italian families and consisting in minor gene rearrangements. The first one (FH-Pis...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Motti C,Bertolini S,Rampa P,Trovatello G,Liberatoscioli L,Calandra S,Federici G,Cortese C

    更新日期:1998-01-01 00:00:00