当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.

Abstract：

:Richieri-Costa-Pereira syndrome is an autosomal-recessive acrofacial dysostosis characterized by mandibular median cleft associated with other craniofacial anomalies and severe limb defects. Learning and language disabilities are also prevalent. We mapped the mutated gene to a 122 kb region at 17q25.3 through identity-by-descent analysis in 17 genealogies. Sequencing strategies identified an expansion of a region with several repeats of 18- or 20-nucleotide motifs in the 5' untranslated region (5' UTR) of EIF4A3, which contained from 14 to 16 repeats in the affected individuals and from 3 to 12 repeats in 520 healthy individuals. A missense substitution of a highly conserved residue likely to affect the interaction of eIF4AIII with the UPF3B subunit of the exon junction complex in trans with an expanded allele was found in an unrelated individual with an atypical presentation, thus expanding mutational mechanisms and phenotypic diversity of RCPS. EIF4A3 transcript abundance was reduced in both white blood cells and mesenchymal cells of RCPS-affected individuals as compared to controls. Notably, targeting the orthologous eif4a3 in zebrafish led to underdevelopment of several craniofacial cartilage and bone structures, in agreement with the craniofacial alterations seen in RCPS. Our data thus suggest that RCPS is caused by mutations in EIF4A3 and show that EIF4A3, a gene involved in RNA metabolism, plays a role in mandible, laryngeal, and limb morphogenesis.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Favaro FP,Alvizi L,Zechi-Ceide RM,Bertola D,Felix TM,de Souza J,Raskin S,Twigg SR,Weiner AM,Armas P,Margarit E,Calcaterra NB,Andersen GR,McGowan SJ,Wilkie AO,Richieri-Costa A,de Almeida ML,Passos-Bueno MR

doi

10.1016/j.ajhg.2013.11.020

subject

Has Abstract

pub_date

2014-01-02 00:00:00

pages

120-8

issue

1

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(13)00535-1

journal_volume

94

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Identification of a new candidate locus for uric acid nephrolithiasis.

    abstract：:Renal stone formation is a common multifactorial disorder, of unknown etiology, with an established genetic contribution. Lifetime risk for nephrolithiasis is approximately 10% in Western populations, and uric acid stones account for 5%-10% of all stones, depending on climatic, dietary, and ethnic differences. We stud...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/320105

    authors： Ombra MN,Forabosco P,Casula S,Angius A,Maestrale G,Petretto E,Casu G,Colussi G,Usai E,Melis P,Pirastu M

    更新日期：2001-05-01 00:00:00

  • Genomewide linkage analysis for internal carotid artery intimal medial thickness: evidence for linkage to chromosome 12.

    abstract：:Carotid intimal medial thickness (IMT) is a heritable quantitative measure of atherosclerosis. A genomewide linkage analysis was conducted to localize a quantitative-trait locus (QTL) influencing carotid IMT. Carotid IMT was measured in 596 men and 629 women from 311 extended families (1,242 sib pairs) in the Framingh...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/381559

    authors： Fox CS,Cupples LA,Chazaro I,Polak JF,Wolf PA,D'Agostino RB,Ordovas JM,O'Donnell CJ

    更新日期：2004-02-01 00:00:00

  • BRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2.

    abstract：:In order to evaluate the role of inherited BRCA2 mutations in American families--particularly the appearance in America of European founder mutations--the BRCA2 coding sequence, 5' UTR, and 3' UTR were screened in 22 Caucasian American kindreds with four or more cases of breast or ovarian cancer. Six mutations were fo...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Schubert EL,Lee MK,Mefford HC,Argonza RH,Morrow JE,Hull J,Dann JL,King MC

    更新日期：1997-05-01 00:00:00

  • The effects of chorion type on variation in IQ in the NCPP twin population.

    abstract：:The 7-year IQ scores (WISC) of 116 white and 143 black nonmalformed twins of known zygosity and placental type were ascertained from the NINCDS Collaborative Perinatal Project (NCPP). The type of chorion and zygosity had no significant effect on the mean IQ or among-pair variation. In white monozygotic twins, however,...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Melnick M,Myrianthopoulos NC,Christian JC

    更新日期：1978-07-01 00:00:00

  • A genomewide linkage scan for quantitative-trait loci for obesity phenotypes.

    abstract：:Obesity is an increasingly serious health problem in the world. Body mass index (BMI), percentage fat mass, and body fat mass are important indices of obesity. For a sample of pedigrees that contains >10,000 relative pairs (including 1,249 sib pairs) that are useful for linkage analyses, we performed a whole-genome li...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/339934

    authors： Deng HW,Deng H,Liu YJ,Liu YZ,Xu FH,Shen H,Conway T,Li JL,Huang QY,Davies KM,Recker RR

    更新日期：2002-05-01 00:00:00

  • De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

    abstract：:SOX6 belongs to a family of 20 SRY-related HMG-box-containing (SOX) genes that encode transcription factors controlling cell fate and differentiation in many developmental and adult processes. For SOX6, these processes include, but are not limited to, neurogenesis and skeletogenesis. Variants in half of the SOX genes ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2020.04.015

    authors： Tolchin D,Yeager JP,Prasad P,Dorrani N,Russi AS,Martinez-Agosto JA,Haseeb A,Angelozzi M,Santen GWE,Ruivenkamp C,Mercimek-Andrews S,Depienne C,Kuechler A,Mikat B,Ludecke HJ,Bilan F,Le Guyader G,Gilbert-Dussardier B,Ker

    更新日期：2020-06-04 00:00:00

  • Parental inheritance and psychological disability in fragile X females.

    abstract：:Studies of adult female carriers of the fragile X chromosome indicate that certain psychological problems occur with a greater frequency and severity than expected. This study examines the association of parental origin of the fragile X chromosome and of fragility detected in the karyotype with measures of social, edu...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Reiss AL,Freund L,Vinogradov S,Hagerman R,Cronister A

    更新日期：1989-11-01 00:00:00

  • The gene for May-Hegglin anomaly localizes to a

    abstract：:The May-Hegglin anomaly (MHA) is an autosomal dominant platelet disorder of unknown etiology. It is characterized by thrombocytopenia, giant platelets, and leukocyte inclusion bodies, and affected heterozygotes are predisposed to bleeding episodes. The MHA gene has recently been localized, by means of linkage analysis...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302873

    authors： Martignetti JA,Heath KE,Harris J,Bizzaro N,Savoia A,Balduini CL,Desnick RJ

    更新日期：2000-04-01 00:00:00

  • Neuropsychological endophenotype approach to genome-wide linkage analysis identifies susceptibility loci for ADHD on 2q21.1 and 13q12.11.

    abstract：:ADHD linkage findings have not all been consistently replicated, suggesting that other approaches to linkage analysis in ADHD might be necessary, such as the use of (quantitative) endophenotypes (heritable traits associated with an increased risk for ADHD). Genome-wide linkage analyses were performed in the Dutch subs...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2008.06.006

    authors： Rommelse NN,Arias-Vásquez A,Altink ME,Buschgens CJ,Fliers E,Asherson P,Faraone SV,Buitelaar JK,Sergeant JA,Oosterlaan J,Franke B

    更新日期：2008-07-01 00:00:00

  • Mapping of epidermolysis bullosa simplex mutation to chromosome 12.

    abstract：:Epidermolysis bullosa simplex (EBS) is a dominantly inherited genodermatosis characterized by intraepidermal blister formation. Recent reports have suggested that EBS mutations may relate to keratin abnormalities. In this study, we conducted RFLP analyses to test the hypothesis that EBS is linked to one of the keratin...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Ryynänen M,Knowlton RG,Uitto J

    更新日期：1991-11-01 00:00:00

  • A log-linear approach to case-parent-triad data: assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting.

    abstract：:We describe a log-linear method for analysis of case-parent-triad data, based on maximum likelihood with stratification on parental mating type. The method leads to estimates of association parameters, such as relative risks, for a single allele, and also to likelihood ratio chi2 tests (LRTs) of linkage disequilibrium...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/301802

    authors： Weinberg CR,Wilcox AJ,Lie RT

    更新日期：1998-04-01 00:00:00

  • Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis.

    abstract：:Mastocytosis is a rare myeloid neoplasm characterized by uncontrolled expansion of mast cells, driven in >80% of affected individuals by acquisition of the KIT D816V mutation. To explore the hypothesis that inherited variation predisposes to mastocytosis, we performed a two-stage genome-wide association study, analyzi...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2020.12.007

    authors： Galatà G,García-Montero AC,Kristensen T,Dawoud AAZ,Muñoz-González JI,Meggendorfer M,Guglielmelli P,Hoade Y,Alvarez-Twose I,Gieger C,Strauch K,Ferrucci L,Tanaka T,Bandinelli S,Schnurr TM,Haferlach T,Broesby-Olsen S,Veste

    更新日期：2021-01-04 00:00:00

  • Evidence for the close linkage between lymphocyte cytosol polypeptide with molecular weight of 64,000 (LCP1) and esterase D.

    abstract：:The genetic linkage of the loci for lymphocyte cytosol polypeptide with molecular weight of 64,000 (LCP1) and esterase (ESD) were examined by two-dimensional gel electrophoresis using blood from four informative families. No recombinants were observed in the four families totaling 17 children, giving a summed lod scor...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kondo I,Hamaguchi H

    更新日期：1985-11-01 00:00:00

  • Homozygosity for Pc 1 Duarte-like protein in primates and other animals.

    abstract：:Pc 1 Duarte is a mutant brain protein present in 32% of the normal human population with 2.6% being homozygous. Preliminary studies suggest an increased frequency of this mutation in individuals with affective disease. To determine if this mutant was present in primates, 32 fetal (wild)-born baboons were examined. All...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Comings DE,Jalanko A,Kuehl TJ

    更新日期：1981-01-01 00:00:00

  • Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina.

    abstract：:Gyrate atrophy of the choroid and retina that is due to ornithine ketoacid transaminase (OKT) deficiency is an autosomal recessive disorder. Fibroblasts from heterozygotes for the pyridoxine-responsive variant as well as those for the pyridoxine-nonresponsive variant contain intermediate levels of OKT activity. These ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Shih VE,Mandell R,Berson EL

    更新日期：1988-12-01 00:00:00

  • Use of a multiethnic approach to identify rheumatoid- arthritis-susceptibility loci, 1p36 and 17q12.

    abstract：:We have previously shown that rheumatoid arthritis (RA) risk alleles overlap between different ethnic groups. Here, we utilize a multiethnic approach to show that we can effectively discover RA risk alleles. Thirteen putatively associated SNPs that had not yet exceeded genome-wide significance (p < 5 × 10(-8)) in our ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,meta分析

    doi：10.1016/j.ajhg.2012.01.010

    authors： Kurreeman FA,Stahl EA,Okada Y,Liao K,Diogo D,Raychaudhuri S,Freudenberg J,Kochi Y,Patsopoulos NA,Gupta N,CLEAR investigators.,Sandor C,Bang SY,Lee HS,Padyukov L,Suzuki A,Siminovitch K,Worthington J,Gregersen PK,Hugh

    更新日期：2012-03-09 00:00:00

  • A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.

    abstract：:The autosomal dominant cerebellar ataxias (ADCA) type I are a group of neurological disorders that are clinically and genetically heterogeneous. Two genes implicated in the disease, SCA1 (spinal cerebellar ataxia 1) and SCA2, are already localized. We have mapped a third locus to chromosome 14q24.3-qter, by linkage an...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Stevanin G,Le Guern E,Ravisé N,Chneiweiss H,Dürr A,Cancel G,Vignal A,Boch AL,Ruberg M,Penet C

    更新日期：1994-01-01 00:00:00

  • HLA-DQ primarily confers protection and HLA-DR susceptibility in type I (insulin-dependent) diabetes studied in population-based affected families and controls.

    abstract：:The association between HLA-DR and -DQ and insulin-dependent diabetes mellitus (IDDM) in a defined high-incidence area was analyzed in a total of 58 population-based patients, representing 77% of IDDM patients with age at onset below 16 years, and in 92 unrelated parents in control families without IDDM. HLA haplotype...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kockum I,Wassmuth R,Holmberg E,Michelsen B,Lernmark A

    更新日期：1993-07-01 00:00:00

  • Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

    abstract：:Ataxia-pancytopenia (AP) syndrome is characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure and myeloid leukemia, sometimes associated with monosomy 7. Here, in the four-generation family UW-AP, linkage analysis revealed four regions that provided the maximal LOD scor...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2016.04.009

    authors： Chen DH,Below JE,Shimamura A,Keel SB,Matsushita M,Wolff J,Sul Y,Bonkowski E,Castella M,Taniguchi T,Nickerson D,Papayannopoulou T,Bird TD,Raskind WH

    更新日期：2016-06-02 00:00:00

  • Significant linkage on chromosome 10p in families with bulimia nervosa.

    abstract：:Bulimia nervosa (BN) is strongly familial, and additive genetic effects appear to contribute substantially to the observed familiality. In turn, behavioral components of BN, such as self-induced vomiting, are reliably measured and heritable. To identify regions of the genome harboring genetic variants conferring susce...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/345801

    authors： Bulik CM,Devlin B,Bacanu SA,Thornton L,Klump KL,Fichter MM,Halmi KA,Kaplan AS,Strober M,Woodside DB,Bergen AW,Ganjei JK,Crow S,Mitchell J,Rotondo A,Mauri M,Cassano G,Keel P,Berrettini WH,Kaye WH

    更新日期：2003-01-01 00:00:00

  • In utero diagnosis of Gaucher disease.

    abstract：:Beta-Glucosidase activity measured by synthetic substrate at pH 4.6 was low in the cultured amniotic cells from two pregnant women at risk for juvenile and adult type Gaucher disease. The diagnosis was confirmed by showing a low activity of beta-glucosidase in the skin fibroblasts with a synthetic substrate or in the ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kitagawa T,Owada M,Sakiyama T,Aoki K,Kamoshita S,Amenomori Y,Kobayashi T

    更新日期：1978-05-01 00:00:00

  • Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

    abstract：:Microtubules are dynamic cytoskeletal elements coordinating and supporting a variety of neuronal processes, including cell division, migration, polarity, intracellular trafficking, and signal transduction. Mutations in genes encoding tubulins and microtubule-associated proteins are known to cause neurodevelopmental an...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2016.08.003

    authors： Flex E,Niceta M,Cecchetti S,Thiffault I,Au MG,Capuano A,Piermarini E,Ivanova AA,Francis JW,Chillemi G,Chandramouli B,Carpentieri G,Haaxma CA,Ciolfi A,Pizzi S,Douglas GV,Levine K,Sferra A,Dentici ML,Pfundt RR,Le Pi

    更新日期：2016-10-06 00:00:00

  • A quantitative-trait analysis of human plasma-dopamine beta-hydroxylase activity: evidence for a major functional polymorphism at the DBH locus.

    abstract：:Dopamine-beta-hydroxylase (D beta H) catalyzes the conversion of dopamine to norepinephrine and is released from sympathetic neurons into the circulation. Plasma-D beta H activity varies widely between individuals, and a subgroup of the population has very low activity levels. Mounting evidence suggests that the DBH s...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/318198

    authors： Zabetian CP,Anderson GM,Buxbaum SG,Elston RC,Ichinose H,Nagatsu T,Kim KS,Kim CH,Malison RT,Gelernter J,Cubells JF

    更新日期：2001-02-01 00:00:00

  • Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).

    abstract：:The gene that is involved in juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease--CLN3--has been localized to 16p12, and the mutation shows a strong association with alleles of microsatellite markers D16S298, D16S299, and D16S288. Recently, haplotype analysis of a Batten patient from a consanguineous rel...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Taschner PE,de Vos N,Thompson AD,Callen DF,Doggett N,Mole SE,Dooley TP,Barth PG,Breuning MH

    更新日期：1995-03-01 00:00:00

  • The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

    abstract：:Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying molecular etiology remains largely unknown because of genetic and phenotypic heterogeneity. We applied exome sequencing (ES) in a cohor...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2019.05.015

    authors： Pehlivan D,Bayram Y,Gunes N,Coban Akdemir Z,Shukla A,Bierhals T,Tabakci B,Sahin Y,Gezdirici A,Fatih JM,Gulec EY,Yesil G,Punetha J,Ocak Z,Grochowski CM,Karaca E,Albayrak HM,Radhakrishnan P,Erdem HB,Sahin I,Yildirim

    更新日期：2019-07-03 00:00:00

  • Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

    abstract：:Tubular aggregates are regular arrays of membrane tubules accumulating in muscle with age. They are found as secondary features in several muscle disorders, including alcohol- and drug-induced myopathies, exercise-induced cramps, and inherited myasthenia, but also exist as a pure genetic form characterized by slowly p...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.12.007

    authors： Böhm J,Chevessier F,Maues De Paula A,Koch C,Attarian S,Feger C,Hantaï D,Laforêt P,Ghorab K,Vallat JM,Fardeau M,Figarella-Branger D,Pouget J,Romero NB,Koch M,Ebel C,Levy N,Krahn M,Eymard B,Bartoli M,Laporte J

    更新日期：2013-02-07 00:00:00

  • Risk prediction of complex diseases from family history and known susceptibility loci, with applications for cancer screening.

    abstract：:Risk prediction based on genomic profiles has raised a lot of attention recently. However, family history is usually ignored in genetic risk prediction. In this study we proposed a statistical framework for risk prediction given an individual's genotype profile and family history. Genotype information about the relati...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.04.001

    authors： So HC,Kwan JS,Cherny SS,Sham PC

    更新日期：2011-05-13 00:00:00

  • Chinese geneticists' views of ethical issues in genetic testing and screening: evidence for eugenics in China.

    abstract：:To identify Chinese geneticists' views of ethical issues in genetic testing and screening, a national survey was conducted. Of 402 Chinese geneticists asked to participate, 255 (63%) returned by mail anonymous questionnaires. The majority of respondents thought that genetic testing should be offered in the workplace f...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302020

    authors： Mao X

    更新日期：1998-09-01 00:00:00

  • An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.

    abstract：:Autosomal dominant progressive external ophthalmoplegia (adPEO) is a disorder characterized by ptosis, progressive weakness of the external eye muscles, and general muscle weakness. The patients have multiple deletions of mtDNA on Southern blots or in PCR analysis of muscle DNA and a mild deficiency of one or more res...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kaukonen JA,Amati P,Suomalainen A,Rötig A,Piscaglia MG,Salvi F,Weissenbach J,Fratta G,Comi G,Peltonen L,Zeviani M

    更新日期：1996-04-01 00:00:00

  • Parental origin of the extra chromosome in trisomy 18.

    abstract：:The parental origin of the supernumerary chromosome 18 was investigated by RFLP analysis in 23 individuals with Edwards syndrome. All families were studied with the DNA probe pERT-25, which recognizes a locus of highly polymorphic tandemly repeated DNA sequences on chromosome 18. The extra chromosome was found to be o...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kupke KG,Müller U

    更新日期：1989-10-01 00:00:00