当前位置： SCI文献检索 > HUMAN MOLECULAR GENETICS期刊下所有文献 > Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.

Abstract：

:Microdeletion at chromosomal position 15q13.3 has been described in intellectual disability, autism spectrum disorders, schizophrenia and recently in idiopathic generalized epilepsy (IGE). Using independent IGE cohorts, we first aimed to confirm the association of 15q13.3 deletions and IGE. We then set out to determine the relative occurrence of sporadic and familial cases and to examine the likelihood of having seizures for individuals with the microdeletion in familial cases. The 15q13.3 microdeletion was identified in 7 of 539 (1.3%) unrelated cases of IGE using quantitative PCR or SNP arrays and confirmed by array comparative genomic hybridization analysis using probes specific to the 15q13.3 region. The inheritance of this lesion was tracked using family studies. Of the seven microdeletions identified in probands, three were de novo, two were transmitted from an unaffected parent and in two cases the parents were unavailable. Non-penetrance of the microdeletion was identified in 4/7 pedigrees and three pedigrees included other family members with IGE who lacked the 15q13.3 deletion. The odds ratio is 68 (95% confidence interval 29-181), indicating a pathogenic lesion predisposing to epilepsy with complex inheritance and incomplete penetrance for the IGE component of the phenotype in multiplex families.

journal_name

Hum Mol Genet

journal_title

Human molecular genetics

authors

Dibbens LM,Mullen S,Helbig I,Mefford HC,Bayly MA,Bellows S,Leu C,Trucks H,Obermeier T,Wittig M,Franke A,Caglayan H,Yapici Z,EPICURE Consortium.,Sander T,Eichler EE,Scheffer IE,Mulley JC,Berkovic SF

doi

10.1093/hmg/ddp311

subject

Has Abstract

pub_date

2009-10-01 00:00:00

pages

3626-31

issue

19

eissn

0964-6906

issn

1460-2083

pii

ddp311

journal_volume

18

pub_type

杂志文章

相关文献

HUMAN MOLECULAR GENETICS文献大全
  • Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome.

    abstract：:Williams-Beuren syndrome (WBS) is generally the consequence of an interstitial microdeletion at 7q11.23, which includes the elastin gene, thus causing hemizygosity at the elastin gene locus. The origin of the deletion has been reported by many authors to be maternal in approximately 60% and paternal in 40% of cases. S...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/5.12.1893

    authors： Dutly F,Schinzel A

    更新日期：1996-12-01 00:00:00

  • Inhibition of GSK3β improves hippocampus-dependent learning and rescues neurogenesis in a mouse model of fragile X syndrome.

    abstract：:Fragile X syndrome (FXS), a common inherited form of intellectual disability with learning deficits, results from a loss of fragile X mental retardation protein (FMRP). Despite extensive research, treatment options for FXS remain limited. Since FMRP is known to play an important role in adult hippocampal neurogenesis ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddr501

    authors： Guo W,Murthy AC,Zhang L,Johnson EB,Schaller EG,Allan AM,Zhao X

    更新日期：2012-02-01 00:00:00

  • Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association.

    abstract：:The identification of multiple signals at individual loci could explain additional phenotypic variance ('missing heritability') of common traits, and help identify causal genes. We examined gene expression levels as a model trait because of the large number of strong genetic effects acting in cis. Using expression pro...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddr328

    authors： Wood AR,Hernandez DG,Nalls MA,Yaghootkar H,Gibbs JR,Harries LW,Chong S,Moore M,Weedon MN,Guralnik JM,Bandinelli S,Murray A,Ferrucci L,Singleton AB,Melzer D,Frayling TM

    更新日期：2011-10-15 00:00:00

  • Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder.

    abstract：:Bipolar disorder (BD) is a genetically complex mental illness characterized by severe oscillations of mood and behaviour. Genome-wide association studies (GWAS) have identified several risk loci that together account for a small portion of the heritability. To identify additional risk loci, we performed a two-stage me...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,meta分析

    doi：10.1093/hmg/ddw181

    authors： Hou L,Bergen SE,Akula N,Song J,Hultman CM,Landén M,Adli M,Alda M,Ardau R,Arias B,Aubry JM,Backlund L,Badner JA,Barrett TB,Bauer M,Baune BT,Bellivier F,Benabarre A,Bengesser S,Berrettini WH,Bhattacharjee AK,Biern

    更新日期：2016-08-01 00:00:00

  • Disruption of a novel ectodermal neural cortex 1 antisense gene, ENC-1AS and identification of ENC-1 overexpression in hairy cell leukemia.

    abstract：:Karyotypical alteration of chromosome 5 and in particular band 5q13 is a frequent finding in hairy cell leukemia (HCL). We have previously identified a number of candidate genes localized in close proximity to a constitutional inv(5)(p13.1q13.3) breakpoint in one HCL patient. These included beta-hexosaminodase HEXB, f...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddh315

    authors： Hammarsund M,Lerner M,Zhu C,Merup M,Jansson M,Gahrton G,Kluin-Nelemans H,Einhorn S,Grandér D,Sangfelt O,Corcoran M

    更新日期：2004-12-01 00:00:00

  • Challenges and novel approaches for investigating molecular mediation.

    abstract：:Understanding mediation is useful for identifying intermediates lying between an exposure and an outcome which, when intervened upon, will block (some or all of) the causal pathway between the exposure and outcome. Mediation approaches used in conventional epidemiology have been adapted to understanding the role of mo...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddw197

    authors： Richmond RC,Hemani G,Tilling K,Davey Smith G,Relton CL

    更新日期：2016-10-01 00:00:00

  • Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population.

    abstract：:Functional and genomic approaches can be integrated to screen efficiently for pathogenic alleles in founder populations. We applied such approaches to analysis of the cancer-associated cell cycle regulator CHEK2 in the Ashkenazi Jewish population. We first identified two extended haplotypes at CHEK2 that co-segregated...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddi052

    authors： Shaag A,Walsh T,Renbaum P,Kirchhoff T,Nafa K,Shiovitz S,Mandell JB,Welcsh P,Lee MK,Ellis N,Offit K,Levy-Lahad E,King MC

    更新日期：2005-02-15 00:00:00

  • Selective neuronal requirement for huntingtin in the developing zebrafish.

    abstract：:Huntington's disease shares a common molecular basis with eight other neurodegenerative diseases, expansion of an existing polyglutamine tract. In each case, this repeat tract occurs within otherwise unrelated proteins. These proteins show widespread and overlapping patterns of expression in the brain and yet the dise...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddp455

    authors： Henshall TL,Tucker B,Lumsden AL,Nornes S,Lardelli MT,Richards RI

    更新日期：2009-12-15 00:00:00

  • Chylomicronemia mutations yield new insights into interactions between lipoprotein lipase and GPIHBP1.

    abstract：:Lipoprotein lipase (LPL) is a 448-amino-acid head-to-tail dimeric enzyme that hydrolyzes triglycerides within capillaries. LPL is secreted by parenchymal cells into the interstitial spaces; it then binds to GPIHBP1 (glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1) on the basolateral fa...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/dds127

    authors： Gin P,Goulbourne CN,Adeyo O,Beigneux AP,Davies BS,Tat S,Voss CV,Bensadoun A,Fong LG,Young SG

    更新日期：2012-07-01 00:00:00

  • Human cis-acting elements regulating escape from X-chromosome inactivation function in mouse.

    abstract：:A long-standing question concerning X-chromosome inactivation (XCI) has been how some genes avoid the otherwise stable chromosome-wide heterochromatinization of the inactive X chromosome. As 20% or more of human X-linked genes escape from inactivation, such genes are an important contributor to sex differences in gene...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddy039

    authors： Peeters SB,Korecki AJ,Simpson EM,Brown CJ

    更新日期：2018-04-01 00:00:00

  • Biologically active molecules that reduce polyglutamine aggregation and toxicity.

    abstract：:Polyglutamine expansion in certain proteins causes neurodegeneration in inherited disorders such as Huntington disease and X-linked spinobulbar muscular atrophy. Polyglutamine tracts promote protein aggregation in vitro and in vivo with a strict length-dependence that strongly implicates alternative protein folding an...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddl135

    authors： Desai UA,Pallos J,Ma AA,Stockwell BR,Thompson LM,Marsh JL,Diamond MI

    更新日期：2006-07-01 00:00:00

  • Mouse model of severe recessive RYR1-related myopathy.

    abstract：:Ryanodine receptor type I (RYR1)-related myopathies (RYR1 RM) are a clinically and histopathologically heterogeneous group of conditions that represent the most common subtype of childhood onset non-dystrophic muscle disorders. There are no treatments for this severe group of diseases. A major barrier to therapy devel...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddz105

    authors： Brennan S,Garcia-Castañeda M,Michelucci A,Sabha N,Malik S,Groom L,Wei LaPierre L,Dowling JJ,Dirksen RT

    更新日期：2019-09-15 00:00:00

  • Alteration of performance in a mouse model of Emery-Dreifuss muscular dystrophy caused by A-type lamins gene mutation.

    abstract：:Autosomal Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the lamin A/C gene (LMNA) encoding A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. Classically, the disease manifests as scapulo-humero-peroneal muscle wasting and weakness, early joint contractures and dilated ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddz056

    authors： Thomasson R,Vignier N,Peccate C,Mougenot N,Noirez P,Muchir A

    更新日期：2019-07-01 00:00:00

  • Human neural crest cells display molecular and phenotypic hallmarks of stem cells.

    abstract：:The fields of both developmental and stem cell biology explore how functionally distinct cell types arise from a self-renewing founder population. Multipotent, proliferative human neural crest cells (hNCC) develop toward the end of the first month of pregnancy. It is assumed that most differentiate after migrating thr...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddn235

    authors： Thomas S,Thomas M,Wincker P,Babarit C,Xu P,Speer MC,Munnich A,Lyonnet S,Vekemans M,Etchevers HC

    更新日期：2008-11-01 00:00:00

  • Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia.

    abstract：:Missing teeth (hypodontia and oligodontia) are a common developmental abnormality in humans and heterozygous mutations of PAX9 have recently been shown to underlie a number of familial, non-syndromic cases. Whereas PAX9 haploinsufficiency has been suggested as the underlying genetic mechanism, it is not known how this...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddi388

    authors： Kist R,Watson M,Wang X,Cairns P,Miles C,Reid DJ,Peters H

    更新日期：2005-12-01 00:00:00

  • Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells.

    abstract：:The severe reduction in mRNA and protein levels of the mitochondrial protein frataxin, encoded by the X25 gene, causes Friedreich ataxia (FRDA), the most common form of recessive hereditary ataxia. Increasing evidence underlines the pathogenetic role of oxidative stress in this disease. We generated an in vitro cellul...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/11.23.2989

    authors： Pianese L,Busino L,De Biase I,De Cristofaro T,Lo Casale MS,Giuliano P,Monticelli A,Turano M,Criscuolo C,Filla A,Varrone S,Cocozza S

    更新日期：2002-11-01 00:00:00

  • Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.

    abstract：:We have previously developed a functional assay in yeast for the copper transporter, ATP7B, defective in Wilson disease (WND). Analysis of WND variant ATP7B proteins revealed that several were able to completely, or nearly completely, complement a mutant yeast strain in which the ATP7B ortholog CCC2 was disrupted, ind...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/9.13.1927

    authors： Forbes JR,Cox DW

    更新日期：2000-08-12 00:00:00

  • Allele-specific replication timing in imprinted domains: absence of asynchrony at several loci.

    abstract：:Using a bromodeoxyuridine incorporation method to detect replicated DNA, we studied allele-specific replication of several sites within the human Prader-Willi/Angelman and IGF2/H19 imprinted regions. No obvious allele-specific differences in time of replication were detected at most loci previously reported to replica...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/4.12.2287

    authors： Kawame H,Gartler SM,Hansen RS

    更新日期：1995-12-01 00:00:00

  • Circulating microRNAs as potential biomarkers of disease activity and structural damage in ankylosing spondylitis patients.

    abstract：:Ankylosing spondylitis (AS) remains difficult to diagnose before irreversible damage to sacroiliac joint is noticeable. Circulating microRNAs have demonstrated to serve as diagnostic tools for several human diseases. Here, we analysed plasma microRNAs to identify potential AS biomarkers. Higher expression levels of mi...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddy008

    authors： Perez-Sanchez C,Font-Ugalde P,Ruiz-Limon P,Lopez-Pedrera C,Castro-Villegas MC,Abalos-Aguilera MC,Barbarroja N,Arias-de la Rosa I,Lopez-Montilla MD,Escudero-Contreras A,Lopez-Medina C,Collantes-Estevez E,Jimenez-Gomez Y

    更新日期：2018-03-01 00:00:00

  • Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegia.

    abstract：:A large number of mutations in the gene encoding the catalytic subunit of mitochondrial DNA polymerase γ (POLγA) cause human disease. The Y955C mutation is common and leads to a dominant disease with progressive external ophthalmoplegia and other symptoms. The biochemical effect of the Y955C mutation has been extensiv...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddq565

    authors： Atanassova N,Fusté JM,Wanrooij S,Macao B,Goffart S,Bäckström S,Farge G,Khvorostov I,Larsson NG,Spelbrink JN,Falkenberg M

    更新日期：2011-03-15 00:00:00

  • Long-lived epigenetic interactions between perinatal PBDE exposure and Mecp2308 mutation.

    abstract：:The widespread use of persistent organic polybrominated diphenyl ethers (PBDEs) as commercial flame retardants has raised concern about potential long-lived effects on human health. Epigenetic mechanisms, such as DNA methylation, are responsive to environmental influences and have long-lasting consequences. Autism spe...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/dds046

    authors： Woods R,Vallero RO,Golub MS,Suarez JK,Ta TA,Yasui DH,Chi LH,Kostyniak PJ,Pessah IN,Berman RF,LaSalle JM

    更新日期：2012-06-01 00:00:00

  • Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin.

    abstract：:Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant disease caused by mutations in the gene encoding protein kinase C gamma (PKC gamma). We report an SCA14 family with a novel deletion of a termination-codon-containing region, resulting in a missense change and a C-terminal 13-amino-acid extension with inc...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddp298

    authors： Asai H,Hirano M,Shimada K,Kiriyama T,Furiya Y,Ikeda M,Iwamoto T,Mori T,Nishinaka K,Konishi N,Udaka F,Ueno S

    更新日期：2009-10-01 00:00:00

  • Proteomics, bioinformatics and targeted gene expression analysis reveals up-regulation of cochlin and identifies other potential biomarkers in the mouse model for deafness in Usher syndrome type 1F.

    abstract：:Proteins and protein networks associated with cochlear pathogenesis in the Ames waltzer (av) mouse, a model for deafness in Usher syndrome 1F (USH1F), were identified. Cochlear protein from wild-type and av mice at postnatal day 30, a time point in which cochlear pathology is well established, was analyzed by quantita...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddq025

    authors： Chance MR,Chang J,Liu S,Gokulrangan G,Chen DH,Lindsay A,Geng R,Zheng QY,Alagramam K

    更新日期：2010-04-15 00:00:00

  • Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population.

    abstract：:Immunoglobulin E (IgE) concentration in serum is elevated in atopic diseases such as asthma. A large genomic region on chromosome 5 has previously been implicated in the control of IgE levels and bronchial hyperreactivity and may, therefore, harbor genes predisposing to asthma. In an effort to confirm this linkage and...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/6.12.2069

    authors： Laitinen T,Kauppi P,Ignatius J,Ruotsalainen T,Daly MJ,Kääriäinen H,Kruglyak L,Laitinen H,de la Chapelle A,Lander ES,Laitinen LA,Kere J

    更新日期：1997-11-01 00:00:00

  • Molecular genetics of oculocutaneous albinism.

    abstract：:Albinism is a group of genetic disorders characterized by deficient synthesis of melanin pigment. In oculocutaneous albinism (OCA) the pigment deficiency involves the skin, hair, and eyes, whereas in ocular albinism (OA) the defect involves principally the visual system. Type I (tyrosinase-deficient) OCA results from ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,评审

    doi：10.1093/hmg/3.suppl_1.1469

    authors： Spritz RA

    更新日期：1994-01-01 00:00:00

  • Rescue of cell death and inflammation of a mouse model of complex 1-mediated vision loss by repurposed drug molecules.

    abstract：:Inherited mitochondrial optic neuropathies, such as Leber's hereditary optic neuropathy (LHON) and Autosomal dominant optic atrophy (ADOA) are caused by mutant mitochondrial proteins that lead to defects in mitochondrial complex 1-driven ATP synthesis, and cause specific retinal ganglion cell (RGC) loss. Complex 1 def...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddx373

    authors： Yu AK,Datta S,McMackin MZ,Cortopassi GA

    更新日期：2017-12-15 00:00:00

  • Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency.

    abstract：:While the presence of a lipoyl-containing protein (protein X) separate from lipoyl transacetylase in the pyruvate dehydrogenase complex (PDC) has been known for some time, until recently only the cDNA for the yeast enzyme has been cloned. We have cloned, sequenced and characterized the cDNA encoding the human protein ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/7.3.501

    authors： Ling M,McEachern G,Seyda A,MacKay N,Scherer SW,Bratinova S,Beatty B,Giovannucci-Uzielli ML,Robinson BH

    更新日期：1998-03-01 00:00:00

  • Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL.

    abstract：:Infantile neuronal ceroid lipofuscinosis (INCL), a neurodegenerative storage disorder of childhood, is caused by mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene. PPT1 cleaves thioester linkages in S-acylated (palmitoylated) proteins and its mutation causes abnormal intracellular accumulation of fatty-acy...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddl105

    authors： Kim SJ,Zhang Z,Hitomi E,Lee YC,Mukherjee AB

    更新日期：2006-06-01 00:00:00

  • Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome.

    abstract：:We have explored the National Center for Biotechnology Information (NCBI) single nucleotide polymorphisms (SNPs) database for a correlation between the density of putative SNPs, as well as SNPs that map to different chromosomal locations (ambiguously mapped SNPs), and segmental duplications of DNA in chromosome region...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/11.17.1987

    authors： Estivill X,Cheung J,Pujana MA,Nakabayashi K,Scherer SW,Tsui LC

    更新日期：2002-08-15 00:00:00

  • De novo CNVs in bipolar affective disorder and schizophrenia.

    abstract：:An increased rate of de novo copy number variants (CNVs) has been found in schizophrenia (SZ), autism and developmental delay. An increased rate has also been reported in bipolar affective disorder (BD). Here, in a larger BD sample, we aimed to replicate these findings and compare de novo CNVs between SZ and BD. We us...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddu379

    authors： Georgieva L,Rees E,Moran JL,Chambert KD,Milanova V,Craddock N,Purcell S,Sklar P,McCarroll S,Holmans P,O'Donovan MC,Owen MJ,Kirov G

    更新日期：2014-12-15 00:00:00