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https://www.readbyqxmd.com/read/28475290/whole-exome-sequencing-of-families-with-1q21-1-microdeletion-or-microduplication
#1
Ying Qiao, Chansonette Badduke, Flamingo Tang, David Cowieson, Sally Martell, Suzanne M E Lewis, Maria S Peñaherrera, Wendy P Robinson, Allen Volchuk, Evica Rajcan-Separovic
Recurrent microduplications/microdeletions of 1q21.1 are characterized by variable phenotypes ranging from normal development to developmental delay (DD) and congenital anomalies. Their interpretation is challenging especially in families with affected and unaffected carriers. We used whole exome sequencing (WES) to look for sequence variants in two male probands with inherited 1q21.1 CNVs that could explain their more severe phenotypes. One proband had a 1q21.1 deletion transmitted from maternal grandmother, while the other had a paternal duplication...
May 5, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28370826/microtubule-associated-defects-caused-by-efhc1-mutations-in-juvenile-myoclonic-epilepsy
#2
Praveen K Raju, Parthasarthy Satishchandra, Sourav Nayak, Vishwanathan Iyer, Sanjib Sinha, Anuranjan Anand
Juvenile myoclonic epilepsy (JME) is a common form of epilepsy with a substantial genetic basis to its etiology. While earlier studies have identified EFHC1 as a causative gene for JME, subsequent studies have suggested that ethnicity may play a role in determining expression of the JME phenotype among individuals carrying EFHC1 mutations. Here, we report on our studies on EFHC1 in JME patients from India. We examined the complete structure of the EFHC1 transcript from 480 JME patients and 700 control chromosomes by direct sequencing...
March 31, 2017: Human Mutation
https://www.readbyqxmd.com/read/28074849/genetic-variants-identified-from-epilepsy-of-unknown-etiology-in-chinese-children-by-targeted-exome-sequencing
#3
Yimin Wang, Xiaonan Du, Rao Bin, Shanshan Yu, Zhezhi Xia, Guo Zheng, Jianmin Zhong, Yunjian Zhang, Yong-Hui Jiang, Yi Wang
Genetic factors play a major role in the etiology of epilepsy disorders. Recent genomics studies using next generation sequencing (NGS) technique have identified a large number of genetic variants including copy number (CNV) and single nucleotide variant (SNV) in a small set of genes from individuals with epilepsy. These discoveries have contributed significantly to evaluate the etiology of epilepsy in clinic and lay the foundation to develop molecular specific treatment. However, the molecular basis for a majority of epilepsy patients remains elusive, and furthermore, most of these studies have been conducted in Caucasian children...
January 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/27467453/efhc1-variants-in-juvenile-myoclonic-epilepsy-reanalysis-according-to-nhgri-and-acmg-guidelines-for-assigning-disease-causality
#4
Julia N Bailey, Christopher Patterson, Laurence de Nijs, Reyna M Durón, Viet-Huong Nguyen, Miyabi Tanaka, Marco T Medina, Aurelio Jara-Prado, Iris E Martínez-Juárez, Adriana Ochoa, Yolli Molina, Toshimitsu Suzuki, María E Alonso, Jenny E Wight, Yu-Chen Lin, Laura Guilhoto, Elza Marcia Targas Yacubian, Jesús Machado-Salas, Andrea Daga, Kazuhiro Yamakawa, Thierry M Grisar, Bernard Lakaye, Antonio V Delgado-Escueta
PURPOSE: EFHC1 variants are the most common mutations in inherited myoclonic and grand mal clonic-tonic-clonic (CTC) convulsions of juvenile myoclonic epilepsy (JME). We reanalyzed 54 EFHC1 variants associated with epilepsy from 17 cohorts based on National Human Genome Research Institute (NHGRI) and American College of Medical Genetics and Genomics (ACMG) guidelines for interpretation of sequence variants. METHODS: We calculated Bayesian LOD scores for variants in coinheritance, unconditional exact tests and odds ratios (OR) in case-control associations, allele frequencies in genome databases, and predictions for conservation/pathogenicity...
February 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27193298/pacrg-a-protein-linked-to-ciliary-motility-mediates-cellular-signaling
#5
Catrina M Loucks, Nathan J Bialas, Martijn P J Dekkers, Denise S Walker, Laura J Grundy, Chunmei Li, P Nick Inglis, Katarzyna Kida, William R Schafer, Oliver E Blacque, Gert Jansen, Michel R Leroux
Cilia are microtubule-based organelles that project from nearly all mammalian cell types. Motile cilia generate fluid flow, whereas nonmotile (primary) cilia are required for sensory physiology and modulate various signal transduction pathways. Here we investigate the nonmotile ciliary signaling roles of parkin coregulated gene (PACRG), a protein linked to ciliary motility. PACRG is associated with the protofilament ribbon, a structure believed to dictate the regular arrangement of motility-associated ciliary components...
July 1, 2016: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/26783883/identifying-domains-of-efhc1-involved-in-ciliary-localization-ciliogenesis-and-the-regulation-of-wnt-signaling
#6
Ying Zhao, Jianli Shi, Mark Winey, Michael W Klymkowsky
EFHC1 encodes a ciliary protein that has been linked to Juvenile Myoclonic Epilepsy. In ectodermal explants, derived from Xenopus laevis embryos, the morpholino-mediated down-regulation of EFHC1b inhibited multiciliated cell formation. In those ciliated cells that did form, axoneme but not basal body formation was inhibited. EFHC1b morphant embryos displayed defects in central nervous system (CNS) and neural crest patterning that were rescued by a EFHC1b-GFP chimera. EFHC1b-GFP localized to ciliary axonemes in epidermal, gastrocoele roof plate, and neural tube cells...
March 15, 2016: Developmental Biology
https://www.readbyqxmd.com/read/26542096/meta-analysis-identifies-seven-susceptibility-loci-involved-in-the-atopic-march
#7
Ingo Marenholz, Jorge Esparza-Gordillo, Franz Rüschendorf, Anja Bauerfeind, David P Strachan, Ben D Spycher, Hansjörg Baurecht, Patricia Margaritte-Jeannin, Annika Sääf, Marjan Kerkhof, Markus Ege, Svetlana Baltic, Melanie C Matheson, Jin Li, Sven Michel, Wei Q Ang, Wendy McArdle, Andreas Arnold, Georg Homuth, Florence Demenais, Emmanuelle Bouzigon, Cilla Söderhäll, Göran Pershagen, Johan C de Jongste, Dirkje S Postma, Charlotte Braun-Fahrländer, Elisabeth Horak, Ludmila M Ogorodova, Valery P Puzyrev, Elena Yu Bragina, Thomas J Hudson, Charles Morin, David L Duffy, Guy B Marks, Colin F Robertson, Grant W Montgomery, Bill Musk, Philip J Thompson, Nicholas G Martin, Alan James, Patrick Sleiman, Elina Toskala, Elke Rodriguez, Regina Fölster-Holst, Andre Franke, Wolfgang Lieb, Christian Gieger, Andrea Heinzmann, Ernst Rietschel, Thomas Keil, Sven Cichon, Markus M Nöthen, Craig E Pennell, Peter D Sly, Carsten O Schmidt, Anja Matanovic, Valentin Schneider, Matthias Heinig, Norbert Hübner, Patrick G Holt, Susanne Lau, Michael Kabesch, Stefan Weidinger, Hakon Hakonarson, Manuel A R Ferreira, Catherine Laprise, Maxim B Freidin, Jon Genuneit, Gerard H Koppelman, Erik Melén, Marie-Hélène Dizier, A John Henderson, Young Ae Lee
Eczema often precedes the development of asthma in a disease course called the 'atopic march'. To unravel the genes underlying this characteristic pattern of allergic disease, we conduct a multi-stage genome-wide association study on infantile eczema followed by childhood asthma in 12 populations including 2,428 cases and 17,034 controls. Here we report two novel loci specific for the combined eczema plus asthma phenotype, which are associated with allergic disease for the first time; rs9357733 located in EFHC1 on chromosome 6p12...
November 6, 2015: Nature Communications
https://www.readbyqxmd.com/read/26423924/genetic-investigation-of-sudden-unexpected-death-in-epilepsy-cohort-by-panel-target-resequencing
#8
Monica Coll, Catarina Allegue, Sara Partemi, Jesus Mates, Bernat Del Olmo, Oscar Campuzano, Vincenzo Pascali, Anna Iglesias, Pasquale Striano, Antonio Oliva, Ramon Brugada
Sudden unexpected death in epilepsy (SUDEP) is defined as the abrupt, no traumatic, witnessed or unwitnessed death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus (seizure duration ≥ 30 min or seizures without recovery), and in which postmortem examination does not reveal a cause of death. Although the physiopathological mechanisms that underlie SUDEP remain to be clarified, the genetic background has been described to play a role in this disorder...
March 2016: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/25645277/commentary-pathogenic-efhc1-mutations-are-tolerated-in-healthy-individuals-dependent-on-reported-ancestry
#9
COMMENT
Deb Pal, Ingo Helbig
No abstract text is available yet for this article.
February 2015: Epilepsia
https://www.readbyqxmd.com/read/25625532/predictive-value-of-efhc1-variants-for-the-long-term-seizure-outcome-in-juvenile-myoclonic-epilepsy
#10
Felix von Podewils, Victoria Kowoll, Winnie Schroeder, Julia Geithner, Zhong I Wang, Bernadette Gaida, Paula Bombach, Christof Kessler, Ute Felbor, Uwe Runge
OBJECTIVE: This study aimed to determine the contribution of EFHC1 variants to the phenotypic variability of juvenile myoclonic epilepsy (JME) and to evaluate their diagnostic value regarding previously identified clinical long-term seizure outcome predictors in a consecutive cohort of patients with JME. METHODS: Thirty-eight probands and three family members affected with JME were studied at a tertiary epilepsy center with a review of their medical records and a subsequent face-to-face interview...
March 2015: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/25489633/pathogenic-efhc1-mutations-are-tolerated-in-healthy-individuals-dependent-on-reported-ancestry
#11
Ryan L Subaran, Juliette M Conte, William C L Stewart, David A Greenberg
OBJECTIVE: Screening for specific coding mutations in the EFHC1 gene has been proposed as a means of assessing susceptibility to juvenile myoclonic epilepsy (JME). To clarify the role of these mutations, especially those reported to be highly penetrant, we sought to measure the frequency of exonic EFHC1 mutations across multiple population samples. METHODS: To find and test variants of large effect, we sequenced all EFHC1 exons in 23 JME and 23 non-JME idiopathic generalized epilepsy (IGE) Hispanic patients, and 60 matched controls...
February 2015: Epilepsia
https://www.readbyqxmd.com/read/25205872/juvenile-myoclonic-epilepsy-efhc1-at-the-cross-roads
#12
Subramaniam Ganesh
No abstract text is available yet for this article.
April 2010: Annals of Neurosciences
https://www.readbyqxmd.com/read/23756482/re-evaluation-of-myoclonin1-immunosignals-in-neuron-mitotic-spindle-and-midbody-nonspecific
#13
Kazuhiro Yamakawa, Toshimitsu Suzuki
Mutations in EFHC1 gene cause juvenile myoclonic epilepsy (JME). We previously showed that myoclonin1 protein encoded by EFHC1 is expressed in prenatal choroid plexus and postnatal ependymal cell cilia but may not be in neurons. However, another group reported that myoclonin1 is expressed in neurons and at mitotic spindle, and that the suppression of EFHC1 by RNAi caused disruption of mitotic spindle structure, impaired M-phase progression, and an increase of apoptosis. We re-investigated their results by using the same polyclonal antibody that they used, and found that the signals in neurons remained in Efhc1-deficient mouse, suggesting that the signals in neurons were nonspecific...
July 2013: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/23756481/juvenile-myoclonic-epilepsy-as-a-possible-neurodevelopmental-disease-role-of-efhc1-or-myoclonin1
#14
Laurence de Nijs, Nathalie Wolkoff, Thierry Grisar, Bernard Lakaye
Juvenile Myoclonic Epilepsy (JME) accounts for almost 12% of all epilepsies and is one of the most frequent forms of genetic generalized epilepsies. Genetic studies have revealed that mutations in EFHC1 (EF-hand containing one) account for 3 to 9% of all cases around the world. This gene encodes a protein that is not an ion channel, and several studies have tried to find its cellular role. In this article, we review the various functions that have been proposed for this protein. Interestingly, all of them could affect brain development at different steps, suggesting that the developmental assembly of neural circuits may play a prominent role in JME...
July 2013: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/23756480/the-quest-for-juvenile-myoclonic-epilepsy-genes
#15
REVIEW
Antonio V Delgado-Escueta, Bobby P C Koeleman, Julia N Bailey, Marco T Medina, Reyna M Durón
Introduced into a specific population, a juvenile myoclonic epilepsy (JME) mutation generates linkage disequilibrium (LD). Linkage disequilibrium is strongest when the JME mutation is of recent origin, still "hitchhiking" alleles surrounding it, as a haplotype into the next thousands of generations. Recombinations decay LD over tens of thousands of generations causing JME alleles to produce smaller genetic displacements, requiring other genes or environment to produce an epilepsy phenotype. Family-based linkage analysis captures rare epilepsy alleles and their "hitchhiking" haplotypes, transmitted as Mendelian traits, supporting the common disease/multiple rare allele model...
July 2013: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/23756479/what-is-special-about-the-adolescent-jme-brain
#16
REVIEW
Dana Craiu
Juvenile myoclonic epilepsy (JME) involves cortico-thalamo-cortical networks. Thalamic, frontal gray matter, connectivity, and neurotransmitter disturbances have been demonstrated by structural/functional imaging studies. Few patients with JME show mutations in genes coding ion channels or GABAA (gamma-aminobutyric acid) receptor subunits. Recent research points to EFHC1 gene mutations leading to microdysgenesis and possible aberrant circuitry. Imaging studies have shown massive structural/functional changes of normally developing adolescent brain structures maturing at strikingly different rates and times...
July 2013: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/23213475/proteomic-analysis-of-multiple-primary-cilia-reveals-a-novel-mode-of-ciliary-development-in-mammals
#17
Keishi Narita, Hiroko Kozuka-Hata, Yuta Nonami, Hiroko Ao-Kondo, Toshimitsu Suzuki, Hideki Nakamura, Kazuhiro Yamakawa, Masaaki Oyama, Takafumi Inoue, Sen Takeda
Cilia are structurally and functionally diverse organelles, whose malfunction leads to ciliopathies. While recent studies have uncovered common ciliary transport mechanisms, limited information is available on the proteome of cilia, particularly that of sensory subtypes, which could provide insight into their functional and developmental diversities. In the present study, we performed proteomic analysis of unique, multiple 9+0 cilia in choroid plexus epithelial cells (CPECs). The analysis of juvenile swine CPEC cilia identified 868 proteins...
August 15, 2012: Biology Open
https://www.readbyqxmd.com/read/22926142/mutations-of-efhc1-linked-to-juvenile-myoclonic-epilepsy-disrupt-radial-and-tangential-migrations-during-brain-development
#18
Laurence de Nijs, Nathalie Wolkoff, Bernard Coumans, Antonio V Delgado-Escueta, Thierry Grisar, Bernard Lakaye
Heterozygous mutations in Myoclonin1/EFHC1 cause juvenile myoclonic epilepsy (JME), the most common form of genetic generalized epilepsies, while homozygous F229L mutation is associated with primary intractable epilepsy in infancy. Heterozygous mutations in adolescent JME patients produce subtle malformations of cortical and subcortical architecture, whereas homozygous F229L mutation in infancy induces severe brain pathology and death. However, the underlying pathological mechanisms for these observations remain unknown...
December 1, 2012: Human Molecular Genetics
https://www.readbyqxmd.com/read/22727576/novel-myoclonin1-efhc1-mutations-in-mexican-patients-with-juvenile-myoclonic-epilepsy
#19
Aurelio Jara-Prado, Iris E Martínez-Juárez, Adriana Ochoa, Víctor M González, María Del Carmen Fernández-González-Aragón, Minerva López-Ruiz, Marco T Medina, Julia N Bailey, Antonio V Delgado-Escueta, María Elisa Alonso
PURPOSE: The purpose of this study was to identify the prevalence of mutations in the Myoclonin1/EFHC1 gene in Mexican patients with juvenile myoclonic epilepsy (JME). METHOD: We studied forty-one patients at the National Institute of Neurology and Neurosurgery in Mexico City and 100 healthy controls. DNA was extracted from the peripheral venous blood of all participants. The exons of EFHC1 were then amplified and sequenced. RESULTS: We found three new putative mutations, all of which were heterozygous missense mutations located in exon 3...
September 2012: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/22690745/intractable-epilepsy-of-infancy-due-to-homozygous-mutation-in-the-efhc1-gene
#20
Itai Berger, Talya Dor, Jonatan Halvardson, Simon Edvardson, Avraham Shaag, Lars Feuk, Orly Elpeleg
PURPOSE: The molecular etiology of primary intractable epilepsy in infancy is largely unknown. We studied a nonconsanguineous Moroccan-Jewish family, where three of their seven children presented with intractable seizures and died at 18-36 months. METHODS: Homozygous regions were searched using 250 K DNA single nucleotide polymorphism (SNP) array. The sequence of 50 Mb exome of a single patient was determined using SOLiD 5500XL deep sequencing analyzer. KEY FINDINGS: A single homozygous 11...
August 2012: Epilepsia
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