Evidence for the multiple hits genetic theory for inherited language impairment: a case study.

Abstract:

:Communication disorders have complex genetic origins, with constellations of relevant gene markers that vary across individuals. Some genetic variants are present in healthy individuals as well as those affected by developmental disorders. Growing evidence suggests that some variants may increase susceptibility to these disorders in the presence of other pathogenic gene mutations. In the current study, we describe eight children with specific language impairment and four of these children had a copy number variant in one of these potential susceptibility regions on chromosome 15. Three of these four children also had variants in other genes previously associated with language impairment. Our data support the theory that 15q11.2 is a susceptibility region for developmental disorders, specifically language impairment.

journal_name

Front Genet

journal_title

Frontiers in genetics

authors

Centanni TM,Green JR,Iuzzini-Seigel J,Bartlett CW,Hogan TP

doi

10.3389/fgene.2015.00272

subject

Has Abstract

pub_date

2015-08-24 00:00:00

pages

272

issn

1664-8021

journal_volume

6

pub_type

杂志文章
  • Bayesian, Likelihood-Free Modelling of Phenotypic Plasticity and Variability in Individuals and Populations.

    abstract::There is a paradigm shift from the traditional focus on the "average" individual towards the definition and analysis of trait variation within individual life-history and among individuals in populations. This is a result of increasing availability of individual phenotypic data. The shift allows the use of genetic and...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2019.00727

    authors: Filipe JAN,Kyriazakis I

    更新日期:2019-09-20 00:00:00

  • Prospects and challenges for the conservation of farm animal genomic resources, 2015-2025.

    abstract::Livestock conservation practice is changing rapidly in light of policy developments, climate change and diversifying market demands. The last decade has seen a step change in technology and analytical approaches available to define, manage and conserve Farm Animal Genomic Resources (FAnGR). However, these rapid change...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2015.00314

    authors: Bruford MW,Ginja C,Hoffmann I,Joost S,Orozco-terWengel P,Alberto FJ,Amaral AJ,Barbato M,Biscarini F,Colli L,Costa M,Curik I,Duruz S,Ferenčaković M,Fischer D,Fitak R,Groeneveld LF,Hall SJ,Hanotte O,Hassan FU,Helsen

    更新日期:2015-10-21 00:00:00

  • Association of Apelin and Apelin Receptor Polymorphisms With the Risk of Comorbid Depression and Anxiety in Coronary Heart Disease Patients.

    abstract::The Apelin (APLN)/apelin receptor (APLNR) signaling pathway is a newly identified regulator in various cardiovascular diseases, which is considered as a candidate pathway for the occurrence of coronary heart disease (CHD), depression, and anxiety. The goal of this study was to investigate the association between APLN/...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.00893

    authors: Wang Y,Liu W,Xiao Y,Yuan H,Wang F,Jiang P,Luo Z

    更新日期:2020-08-11 00:00:00

  • Bioinformatics Analysis Reveals Biomarkers With Cancer Stem Cell Characteristics in Lung Squamous Cell Carcinoma.

    abstract:Background:Tumor stem cells play important roles in the survival, proliferation, metastasis and recurrence of tumors. We aimed to identify new prognostic biomarkers for lung squamous cell carcinoma (LUSC) based on the cancer stem cell theory. Methods:RNA-seq data and relevant clinical information were downloaded from ...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.00427

    authors: Liao Y,Xiao H,Cheng M,Fan X

    更新日期:2020-05-13 00:00:00

  • Space Radiation Alters Genotype-Phenotype Correlations in Fear Learning and Memory Tests.

    abstract::Behavioral and cognitive traits have a genetic component even though contributions from individual genes and genomic loci are in many cases modest. Changes in the environment can alter genotype-phenotype relationships. Space travel, which includes exposure to ionizing radiation, constitutes environmental challenges an...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2018.00404

    authors: Iancu OD,Boutros SW,Olsen RHJ,Davis MJ,Stewart B,Eiwaz M,Marzulla T,Belknap J,Fallgren CM,Edmondson EF,Weil MM,Raber J

    更新日期:2018-10-09 00:00:00

  • Sulfite Alters the Mitochondrial Network in Molybdenum Cofactor Deficiency.

    abstract::Molybdenum cofactor deficiency (MoCD) is an autosomal recessive disorder belonging to the large family of inborn errors in metabolism. Patients typically present with encephalopathy and seizures early after birth and develop severe neurodegeneration within the first few weeks of life. The main pathomechanism underlyin...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.594828

    authors: Mellis AT,Roeper J,Misko AL,Kohl J,Schwarz G

    更新日期:2021-01-07 00:00:00

  • A Mini-Atlas of Gene Expression for the Domestic Goat (Capra hircus).

    abstract::Goats (Capra hircus) are an economically important livestock species providing meat and milk across the globe. They are of particular importance in tropical agri-systems contributing to sustainable agriculture, alleviation of poverty, social cohesion, and utilisation of marginal grazing. There are excellent genetic an...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2019.01080

    authors: Muriuki C,Bush SJ,Salavati M,McCulloch MEB,Lisowski ZM,Agaba M,Djikeng A,Hume DA,Clark EL

    更新日期:2019-11-04 00:00:00

  • DNA methylation changes in the postmortem dorsolateral prefrontal cortex of patients with schizophrenia.

    abstract:BACKGROUND:Schizophrenia is a complex psychiatric disorder with a lifetime morbidity rate of 0.5-1.0%. The pathophysiology of schizophrenia still remains obscure. Accumulating evidence indicates that DNA methylation, which is the addition of a methyl group to the cytosine in a CpG dinucleotide, might play an important ...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2014.00280

    authors: Numata S,Ye T,Herman M,Lipska BK

    更新日期:2014-08-26 00:00:00

  • FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation.

    abstract::Fragile X-associated primary ovarian insufficiency (FXPOI) occurs in about 20% of women who carry a premutation allele (55-200 CGG repeats). These women develop hypergonadotropic hypogonadism and have secondary amenorrhea before age 40. A non-linear association with repeat size and risk for FXPOI has been seen in mult...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2018.00292

    authors: Allen EG,Glicksman A,Tortora N,Charen K,He W,Amin A,Hipp H,Shubeck L,Nolin SL,Sherman SL

    更新日期:2018-08-03 00:00:00

  • Towards the Complete Goat Pan-Genome by Recovering Missing Genomic Segments From the Reference Genome.

    abstract::It is broadly expected that next generation sequencing will ultimately generate a complete genome as is the latest goat reference genome (ARS1), which is considered to be one of the most continuous assemblies in livestock. However, the rich diversity of worldwide goat breeds indicates that a genome from one individual...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2019.01169

    authors: Li R,Fu W,Su R,Tian X,Du D,Zhao Y,Zheng Z,Chen Q,Gao S,Cai Y,Wang X,Li J,Jiang Y

    更新日期:2019-11-15 00:00:00

  • Maternal Diet during Pregnancy Induces Gene Expression and DNA Methylation Changes in Fetal Tissues in Sheep.

    abstract::Studies in rats and mice have established that maternal nutrition induces epigenetic modifications, sometimes permanently, that alter gene expression in the fetus, which in turn leads to phenotypic changes. However, limited data is available on the influence of maternal diet on epigenetic modifications and gene expres...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2013.00049

    authors: Lan X,Cretney EC,Kropp J,Khateeb K,Berg MA,Peñagaricano F,Magness R,Radunz AE,Khatib H

    更新日期:2013-04-05 00:00:00

  • A Meta-Analysis Including Pre-selected Sequence Variants Associated With Seven Traits in Three French Dairy Cattle Populations.

    abstract::A within-breed genome-wide association study (GWAS) is useful when identifying the QTL that segregates in a breed. However, an across-breed meta-analysis can be used to increase the power of identification and precise localization of QTL that segregate in multiple breeds. Precise localization will allow including QTL ...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2018.00522

    authors: Marete AG,Guldbrandtsen B,Lund MS,Fritz S,Sahana G,Boichard D

    更新日期:2018-11-06 00:00:00

  • A revised Fisher model on analysis of quantitative trait loci with multiple alleles.

    abstract::Zeng et al. (2005) proposed a general two-allele (G2A) model to model bi-allelic quantitative trait loci (QTL). Comparing with the classical Fisher model, the G2A model can avoid using redundant parameters and be fitted directly using standard least square (LS) approach. In this study, we further extend the G2A model ...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2014.00328

    authors: Wang T

    更新日期:2014-09-25 00:00:00

  • Whole-Genome Resequencing of Red Junglefowl and Indigenous Village Chicken Reveal New Insights on the Genome Dynamics of the Species.

    abstract::The red junglefowl Gallus gallus is the main progenitor of domestic chicken, the commonest livestock species, outnumbering humans by an approximate ratio of six to one. The genetic control for production traits have been well studied in commercial chicken, but the selection pressures underlying unique adaptation and p...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2018.00264

    authors: Lawal RA,Al-Atiyat RM,Aljumaah RS,Silva P,Mwacharo JM,Hanotte O

    更新日期:2018-07-20 00:00:00

  • The Profiling of DNA Methylation and Its Regulation on Divergent Tenderness in Angus Beef Cattle.

    abstract::Beef is an essential food source in the world. Beef quality, especially tenderness, has a significant impact on consumer satisfaction and industry profit. Many types of research to date have focused on the exploration of physiological and developmental mechanisms of beef tenderness. Still, the role and impact of DNA m...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.00939

    authors: Zhao C,Ji G,Carrillo JA,Li Y,Tian F,Baldwin RL,Zan L,Song J

    更新日期:2020-08-26 00:00:00

  • The TALE face of Hox proteins in animal evolution.

    abstract::Hox genes are major regulators of embryonic development. One of their most conserved functions is to coordinate the formation of specific body structures along the anterior-posterior (AP) axis in Bilateria. This architectural role was at the basis of several morphological innovations across bilaterian evolution. In th...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2015.00267

    authors: Merabet S,Galliot B

    更新日期:2015-08-18 00:00:00

  • Does Lin28 Antagonize miRNA-Mediated Repression by Displacing miRISC from Target mRNAs?

    abstract::Lin28 is a developmentally regulated RNA-binding protein that plays important roles in diverse physiological and pathological processes including oncogenesis and brain synaptic function. These pleiotropic roles of Lin28 are mechanistically linked both to its ability to directly stimulate translation of genes involved ...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2012.00240

    authors: Kallen AN,Ma J,Huang Y

    更新日期:2012-11-16 00:00:00

  • Genome-Wide Association Study Identifies Genomic Loci Affecting Filet Firmness and Protein Content in Rainbow Trout.

    abstract::Filet quality traits determine consumer satisfaction and affect profitability of the aquaculture industry. Soft flesh is a criterion for fish filet downgrades, resulting in loss of value. Filet firmness is influenced by many factors, including rate of protein turnover. A 50K transcribed gene SNP chip was used to genot...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2019.00386

    authors: Ali A,Al-Tobasei R,Lourenco D,Leeds T,Kenney B,Salem M

    更新日期:2019-05-03 00:00:00

  • Target of Rapamycin Regulates Genome Methylation Reprogramming to Control Plant Growth in Arabidopsis.

    abstract::DNA methylation is an indispensable epigenetic modification that dynamically regulates gene expression and genome stability during cell growth and development processes. The target of rapamycin (TOR) has emerged as a central regulator to regulate many fundamental cellular metabolic processes from protein synthesis to ...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.00186

    authors: Zhu T,Li L,Feng L,Mo H,Ren M

    更新日期:2020-03-03 00:00:00

  • An Analysis Regarding the Association Between the ISLR Gene and Gastric Carcinogenesis.

    abstract::For datasets of gastric cancer collected by TCGA (The Cancer Genome Atlas) and GEO (Gene Expression Omnibus) repositories, we applied a bioinformatics approach to obtain expression data for the ISLR (immunoglobulin superfamily containing leucine-rich repeat) gene, which is highly expressed in gastric cancer tissues an...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.00620

    authors: Li S,Zhao W,Sun M

    更新日期:2020-06-16 00:00:00

  • Genome-Wide Association Mapping and Genomic Prediction of Anther Extrusion in CIMMYT Hybrid Wheat Breeding Program via Modeling Pedigree, Genomic Relationship, and Interaction With the Environment.

    abstract::Anther extrusion (AE) is the most important male floral trait for hybrid wheat seed production. AE is a complex quantitative trait that is difficult to phenotype reliably in field experiments not only due to high genotype-by-environment effects but also due to the short expression window in the field condition. In thi...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.586687

    authors: Adhikari A,Basnet BR,Crossa J,Dreisigacker S,Camarillo F,Bhati PK,Jarquin D,Manes Y,Ibrahim AMH

    更新日期:2020-12-08 00:00:00

  • Single-Cell Transcriptomics Reveals Spatial and Temporal Turnover of Keratinocyte Differentiation Regulators.

    abstract::Keratinocyte differentiation requires intricately coordinated spatiotemporal expression changes that specify epidermis structure and function. This article utilizes single-cell RNA-seq data from 22,338 human foreskin keratinocytes to reconstruct the transcriptional regulation of skin development and homeostasis genes,...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2019.00775

    authors: Finnegan A,Cho RJ,Luu A,Harirchian P,Lee J,Cheng JB,Song JS

    更新日期:2019-09-03 00:00:00

  • Evidence of Selection Against Damaged Mitochondria During Early Embryogenesis in the Mouse.

    abstract::There is evidence of a purifying filter acting in the female germline to prevent the expansion of deleterious mutations in the mitochondrial DNA (mtDNA). Given our poor understanding of this filter, here we investigate the competence of the mouse embryo to eliminate dysfunctional mitochondria. Toward that, mitochondri...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.00762

    authors: Machado TS,Macabelli CH,Collado MD,Meirelles FV,Guimarães FEG,Chiaratti MR

    更新日期:2020-07-15 00:00:00

  • Immunohistochemical Evaluation of Histological Change in a Chinese Milroy Disease Family With Venous and Skin Abnormities.

    abstract::Background: Milroy disease (MD) is rare and autosomal dominant resulting from mutations of the vascular endothelial growth factor receptor-3 (VEGFR-3 or FLT4), which leads to dysgenesis of the lymphatic system. Methods: Here we report a Chinese MD family with 2 affected members of two generations. We identified the mu...

    journal_title:Frontiers in genetics

    pub_type:

    doi:10.3389/fgene.2019.00206

    authors: Zhang S,Chen X,Yuan L,Wang S,Moli D,Liu S,Wu Y

    更新日期:2019-03-19 00:00:00

  • The Toolbox for Fiber Flax Breeding: A Pipeline From Gene Expression to Fiber Quality.

    abstract::The goal of any plant breeding program is to improve quality of a target crop. Crop quality is a comprehensive feature largely determined by biological background. To improve the quality parameters of crops grown for the production of fiber, a functional approach was used to search for genes suitable for the effective...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.589881

    authors: Galinousky D,Mokshina N,Padvitski T,Ageeva M,Bogdan V,Kilchevsky A,Gorshkova T

    更新日期:2020-11-12 00:00:00

  • Estimation of Genomic Breed Composition for Purebred and Crossbred Animals Using Sparsely Regularized Admixture Models.

    abstract::A variety of statistical methods, such as admixture models, have been used to estimate genomic breed composition (GBC). These methods, however, tend to produce non-zero components to reference breeds that shared some genomic similarity with a test animal. These non-essential GBC components, in turn, offset the estimat...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.00576

    authors: Wang Y,Wu XL,Li Z,Bao Z,Tait RG Jr,Bauck S,Rosa GJM

    更新日期:2020-06-11 00:00:00

  • Now and next-generation sequencing techniques: future of sequence analysis using cloud computing.

    abstract::Advances in the field of sequencing techniques have resulted in the greatly accelerated production of huge sequence datasets. This presents immediate challenges in database maintenance at datacenters. It provides additional computational challenges in data mining and sequence analysis. Together these represent a signi...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2012.00280

    authors: Thakur RS,Bandopadhyay R,Chaudhary B,Chatterjee S

    更新日期:2012-12-11 00:00:00

  • Current progress of RNA aptamer-based therapeutics.

    abstract::Aptamers are single-stranded nucleic acids that specifically recognize and bind tightly to their cognate targets due to their stable three-dimensional structure. Nucleic acid aptamers have been developed for various applications, including diagnostics, molecular imaging, biomarker discovery, target validation, therape...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2012.00234

    authors: Zhou J,Bobbin ML,Burnett JC,Rossi JJ

    更新日期:2012-11-02 00:00:00

  • Copy-number changes in evolution: rates, fitness effects and adaptive significance.

    abstract::Gene copy-number differences due to gene duplications and deletions are rampant in natural populations and play a crucial role in the evolution of genome complexity. Per-locus analyses of gene duplication rates in the pre-genomic era revealed that gene duplication rates are much higher than the per nucleotide substitu...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章,评审

    doi:10.3389/fgene.2013.00273

    authors: Katju V,Bergthorsson U

    更新日期:2013-12-10 00:00:00

  • De novo Assembly and Characterization of the Floral Transcriptomes of Two Varieties of Melastoma malabathricum.

    abstract::Melastoma malabathricum is an important medicinal and landscape plant that is globally distributed in temperate and subtropical regions. However, available genomic information for the entire Melastomataceae family is notably limited. In view of the application potential of floral parts in secondary metabolite extracti...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2019.00521

    authors: Zheng T,Lin Y,Wang L,Lin Q,Lin X,Chen Z,Lin Z

    更新日期:2019-06-19 00:00:00