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https://www.readbyqxmd.com/read/28807762/diagnostic-exome-sequencing-identifies-a-heterozygous-mbd5-frameshift-mutation-in-a-family-with-intellectual-disability-and-epilepsy
#1
Ji Yoon Han, In Goo Lee, Woori Jang, Myungshin Kim, Yonggoo Kim, Ja Hyun Jang, Joonhong Park
Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific mutation has been recently identified as a genetic disorder associated with autism spectrum disorders. Phenotypic features of 2q23.1 deletion or disruption of MBD5 gene include severe intellectual disability, seizure, significant speech impairment, sleep disturbance, and autistic-like behavioural problems. Here we report a 7-year-old girl with intellectual disability and epilepsy without previous clinical diagnosis...
October 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28649445/variable-phenotype-expression-in-a-family-segregating-microdeletions-of-the-nrxn1-and-mbd5-autism-spectrum-disorder-susceptibility-genes
#2
Marc Woodbury-Smith, Rob Nicolson, Mehdi Zarrei, Ryan K C Yuen, Susan Walker, Jennifer Howe, Mohammed Uddin, Ny Hoang, Janet A Buchanan, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W Scherer
Autism Spectrum Disorder (ASD) is a developmental condition of early childhood onset, which impacts socio-communicative functioning and is principally genetic in etiology. Currently, more than 50 genomic loci are deemed to be associated with susceptibility to ASD, showing de novo and inherited unbalanced copy number variants (CNVs) and smaller insertions and deletions (indels), more complex structural variants (SVs), as well as single nucleotide variants (SNVs) deemed of pathological significance. However, the phenotypes associated with many of these genes are variable, and penetrance is largely unelaborated in clinical descriptions...
May 3, 2017: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/28605459/copy-number-variants-are-enriched-in-individuals-with-early-onset-obesity-and-highlight-novel-pathogenic-pathways
#3
Maria Pettersson, Heli Viljakainen, Petra Loid, Taina Mustila, Minna Pekkinen, Miriam Armenio, Johanna C Andersson-Assarsson, Outi Mäkitie, Anna Lindstrand
Context: Only a few genetic causes for childhood obesity have been identified to date. Copy number variants (CNVs) are known to contribute to obesity, both syndromic (15q11.2 deletions, Prader-Willi syndrome) and nonsyndromic (16p11.2 deletions) obesity. Objective: To study the contribution of CNVs to early-onset obesity and evaluate the expression of candidate genes in subcutaneous adipose tissue. Design and Setting: A case-control study in a tertiary academic center...
August 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28604785/genome-wide-association-analysis-and-functional-annotation-of-positional-candidate-genes-for-feed-conversion-efficiency-and-growth-rate-in-pigs
#4
Justyna Horodyska, Ruth M Hamill, Patrick F Varley, Henry Reyer, Klaus Wimmers
Feed conversion efficiency is a measure of how well an animal converts feed into live weight and it is typically expressed as feed conversion ratio (FCR). FCR and related traits like growth rate (e.g. days to 110 kg-D110) are of high interest for animal breeders, farmers and society due to implications on animal performance, feeding costs and environmental sustainability. The objective of this study was to identify genomic regions associated with FCR and D110 in pigs. A total of 952 terminal line boars, showing an individual variation in FCR, were genotyped using 60K SNP-Chips...
2017: PloS One
https://www.readbyqxmd.com/read/28074849/genetic-variants-identified-from-epilepsy-of-unknown-etiology-in-chinese-children-by-targeted-exome-sequencing
#5
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/28008202/investigation-of-single-nucleotide-variants-in-mbd5-associated-with-autism-spectrum-disorders-and-schizophrenia-phenotypes
#6
Kanako Ishizuka, Hiroki Kimura, Akira Yoshimi, Masahiro Banno, Itaru Kushima, Yota Uno, Takashi Okada, Daisuke Mori, Branko Aleksic, Norio Ozaki
MBD5 (Methyl-CpG-binding domain 5) is a critical gene for normal development. While deletion or duplication of MBD5 may contribute to a genetic predisposition to autism spectrum disorders (ASD), intellectual disability, or epilepsy, the impact of rare MBD5 single nucleotide variants (SNVs) on neurodevelopmental features, particularly features with late onset, has not been fully explored. In this study, we conducted exon-targeted resequencing of MBD5 with next-generation sequencing technology in 562 Japanese patients (192 with idiopathic ASD and 370 with schizophrenia (SCZ)) and detected 16 MBD5 SNVs with allele frequencies of ≤1%...
December 2016: Nagoya Journal of Medical Science
https://www.readbyqxmd.com/read/27734276/targeted-next-generation-sequencing-the-diagnostic-value-in-early-onset-epileptic-encephalopathy
#7
Sarenur Gokben, Huseyin Onay, Sanem Yilmaz, Tahir Atik, Gul Serdaroglu, Hande Tekin, Ferda Ozkinay
We investigated the genetic background of early-onset epileptic encephalopathy (EE) using targeted next generation sequencing analysis. Thirty sporadic or familial cases associated with early-onset EE were included. An early-onset EE gene panel including sixteen genes (ARX, CDKL5, CNTNAP2, FOLR1, FOXG1, LAMC3, MBD5, MECP2, NTNG1, PCDH19, PNKP, SCN1A, SCN1B, SCN2A, STXBP1, KCNQ2) was constituted. Nine definite and three potential causal mutations in 30 cases (40 %) were identified. All mutations presented heterozygously except one...
March 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/27514998/clinical-and-molecular-aspects-of-mbd5-associated-neurodevelopmental-disorder-mand
#8
Sureni V Mullegama, Sarah H Elsea
No abstract text is available yet for this article.
August 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27240532/high-resolution-copy-number-variation-analysis-of-schizophrenia-in-japan
#9
I Kushima, B Aleksic, M Nakatochi, T Shimamura, T Shiino, A Yoshimi, H Kimura, Y Takasaki, C Wang, J Xing, K Ishizuka, T Oya-Ito, Y Nakamura, Y Arioka, T Maeda, M Yamamoto, M Yoshida, H Noma, S Hamada, M Morikawa, Y Uno, T Okada, T Iidaka, S Iritani, T Yamamoto, M Miyashita, A Kobori, M Arai, M Itokawa, M-C Cheng, Y-A Chuang, C-H Chen, M Suzuki, T Takahashi, R Hashimoto, H Yamamori, Y Yasuda, Y Watanabe, A Nunokawa, T Someya, M Ikeda, T Toyota, T Yoshikawa, S Numata, T Ohmori, S Kunimoto, D Mori, N Iwata, N Ozaki
Recent schizophrenia (SCZ) studies have reported an increased burden of de novo copy number variants (CNVs) and identified specific high-risk CNVs, although with variable phenotype expressivity. However, the pathogenesis of SCZ has not been fully elucidated. Using array comparative genomic hybridization, we performed a high-resolution genome-wide CNV analysis on a mainly (92%) Japanese population (1699 SCZ cases and 824 controls) and identified 7066 rare CNVs, 70.0% of which were small (<100 kb). Clinically significant CNVs were significantly more frequent in cases than in controls (odds ratio=3...
March 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/27222293/clinical-and-molecular-aspects-of-mbd5-associated-neurodevelopmental-disorder-mand
#10
REVIEW
Sureni V Mullegama, Sarah H Elsea
MBD5-associated neurodevelopmental disorder (MAND) is an umbrella term that describes a group of disorders, 2q23.1 deletion syndrome, 2q23.1 duplication syndrome, and MBD5 variants, that affect the function of methyl-binding domain 5 (MBD5) and share a common set of neurodevelopmental, cognitive, and behavioral impairments. This review provides a comprehensive clinical and molecular synopsis of 2q23.1 deletion syndrome. Approaches to diagnosis, genetic counseling, and up-to-date management are summarized, followed by a discussion of the molecular and functional role of MBD5...
August 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27113213/pathogenic-copy-number-variants-and-scn1a-mutations-in-patients-with-intellectual-disability-and-childhood-onset-epilepsy
#11
Andrew E Fry, Elliott Rees, Rose Thompson, Kiran Mantripragada, Penny Blake, Glyn Jones, Sian Morgan, Sian Jose, Hood Mugalaasi, Hayley Archer, Emma McCann, Angus Clarke, Clare Taylor, Sally Davies, Frances Gibbon, Johann Te Water Naude, Louise Hartley, Gareth Thomas, Catharine White, Jaya Natarajan, Rhys H Thomas, Cheney Drew, Seo-Kyung Chung, Mark I Rees, Peter Holmans, Michael J Owen, George Kirov, Daniela T Pilz, Michael P Kerr
BACKGROUND: Copy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. There are few studies of CNVs in patients with both ID and epilepsy. METHODS: We evaluated the range of rare CNVs found in 80 Welsh patients with ID or developmental delay (DD), and childhood-onset epilepsy. We performed molecular cytogenetic testing by single nucleotide polymorphism array or microarray-based comparative genome hybridisation...
April 26, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27032601/proliferation-and-differentiation-deficits-are-a-major-convergence-point-for-neurodevelopmental-disorders
#12
REVIEW
Carl Ernst
Several lines of evidence suggest that proliferation and differentiation in neural stem cells (NSCs) are a major convergence point of neurodevelopmental disorders (NDDs). Most genes with truncating mutations are implicated in NSC proliferation and differentiation (e.g., MBD5, CDKL5, and MECP2). Similarly, reciprocal deletion/duplication copy-number variants (CNVs), such as 1q21.1 and 16p11.2, are inversely correlated with head size. In addition, pathways such as MAPK, mTOR, and RAS, which are important in cancer, a disease of uncontrolled cell proliferation, are implicated in NDDs...
May 2016: Trends in Neurosciences
https://www.readbyqxmd.com/read/26993267/improving-diagnosis-and-broadening-the-phenotypes-in-early-onset-seizure-and-severe-developmental-delay-disorders-through-gene-panel-analysis
#13
Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Adeline Ngoh, Rodger Palmer, Deborah Morrogh, Christopher Boustred, Jane A Hurst, Lucy Jenkins, Manju A Kurian, Richard H Scott
BACKGROUND: We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe developmental delay. METHODS: In 400 patients with these disorders with no known underlying aetiology and no major structural brain anomaly, we analysed 46 genes using a combination of targeted sequencing on an Illumina MiSeq platform and targeted, exon-level microarray copy number analysis. RESULTS: We identified causative mutations in 71/400 patients (18%)...
May 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/26551231/tomato-mbd5-a-methyl-cpg-binding-domain-protein-physically-interacting-with-uv-damaged-dna-binding-protein-1-functions-in-multiple-processes
#14
Yuxiang Li, Heng Deng, Min Miao, Huirong Li, Shengxiong Huang, Songhu Wang, Yongsheng Liu
In tomato (Solanum lycopersicum), high pigment mutations (hp-1 and hp-2) were mapped to genes encoding UV-damaged DNA binding protein 1 (DDB1) and de-etiolated-1 (DET1), respectively. Here we characterized a tomato methyl-CpG-binding domain protein SlMBD5 identified by yeast two-hybrid screening using SlDDB1 as a bait. Yeast two-hybrid assay demonstrated that the physical interaction of SlMBD5 with SlDDB1 is mediated by the C-termini of SlMBD5 and the β-propeller-C (BPC) of SlDDB1. Co-immunoprecipitation analyses revealed that SlMBD5 associates with SlDDB1-interacting partners including SlDET1, SlCUL4, SlRBX1a and SlRBX1b in vivo...
April 2016: New Phytologist
https://www.readbyqxmd.com/read/26354761/evidence-in-duck-for-supporting-alteration-of-incubation-temperature-may-have-influence-on-methylation-of-genomic-dna
#15
Xi-Ping Yan, He-He Liu, Jun-Ying Liu, Rong-Ping Zhang, Guo-Song Wang, Qing-Qing Li, Ding-Min-Cheng Wang, Liang Li, Ji-Wen Wang
Incubation temperature has an immediate and long-term influence on the embryonic development in birds. DNA methylation as an important environment-induced mechanism could serve as a potential link between embryos' phenotypic variability and temperature variation, which reprogrammed by DNA (cytosine-5)-methyltransferases (DNMTS) and Methyl-CpG binding domain proteins (MBPS) 3&5 (MBD3&5). Five genes in DNMTS and MBPS gene families were selected as target genes, given their important role in epigenetic modification...
October 2015: Poultry Science
https://www.readbyqxmd.com/read/26194112/investigation-of-genes-important-in-neurodevelopment-disorders-in-adult-human-brain
#16
Gilles Maussion, Alpha B Diallo, Carolina O Gigek, Elizabeth S Chen, Liam Crapper, Jean-Francois Théroux, Gary G Chen, Cristina Vasuta, Carl Ernst
Several neurodevelopmental disorders (NDDs) are caused by mutations in genes expressed in fetal brain, but little is known about these same genes in adult human brain. Here, we test the hypothesis that genes associated with NDDs continue to have a role in adult human brain to explore the idea that NDD symptoms may be partially a result of their adult function rather than just their neurodevelopmental function. To demonstrate adult brain function, we performed expression analyses and ChIPseq in human neural stem cell(NSC) lines at different developmental stages and adult human brain, targeting two genes associated with NDDs, SATB2 and EHMT1, and the WNT signaling gene TCF7L2, which has not been associated with NDDs...
October 2015: Human Genetics
https://www.readbyqxmd.com/read/25988649/a-novel-interstitial-deletion-of-2q22-3-q23-3-in-a-patient-with-dysmorphic-features-epilepsy-aganglionosis-pure-red-cell-aplasia-and-skeletal-malformations
#17
Antonio Bravo-Oro, Iosif W Lurie, Gabriela Elizondo-Cárdenas, Claudia Peña-Zepeda, Abel Salazar-Martínez, Cecilia Correa-González, José Luis Castrillo, Silvia Avila, Carmen Esmer
Many chromosomal deletions encompassing the 2q23.1 region have been described ranging from small deletions of 38 kb up to >19 Mb. Most phenotypic features of the 2q23.1 deletion syndrome are due to a MBD5 gene loss independent of the size of the deletion. Here, we describe a male patient harboring a novel interstitial deletion encompassing the 2q22.3 q23.3 chromosomal region. Array-CGH revealed a 7.1 Mb deletion causing haploinsufficiency of several genes including MBD5, ACVR2, KIF5C, and EPC2. This patient presents with additional findings to those already described in individuals who have deletions of MBD5 including toes absence of halluces, pure red cell aplasia, and intestinal aganglionosis...
August 2015: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/25966365/a-molecular-model-for-neurodevelopmental-disorders
#18
C O Gigek, E S Chen, V K Ota, G Maussion, H Peng, K Vaillancourt, A B Diallo, J P Lopez, L Crapper, C Vasuta, G G Chen, C Ernst
Genes implicated in neurodevelopmental disorders (NDDs) important in cognition and behavior may have convergent function and several cellular pathways have been implicated, including protein translational control, chromatin modification, and synapse assembly and maintenance. Here, we test the convergent effects of methyl-CpG binding domain 5 (MBD5) and special AT-rich binding protein 2 (SATB2) reduced dosage in human neural stem cells (NSCs), two genes implicated in 2q23.1 and 2q33.1 deletion syndromes, respectively, to develop a generalized model for NDDs...
2015: Translational Psychiatry
https://www.readbyqxmd.com/read/25853262/phenotypic-and-molecular-convergence-of-2q23-1-deletion-syndrome-with-other-neurodevelopmental-syndromes-associated-with-autism-spectrum-disorder
#19
Sureni V Mullegama, Joseph T Alaimo, Li Chen, Sarah H Elsea
Roughly 20% of autism spectrum disorders (ASD) are syndromic with a well-established genetic cause. Studying the genes involved can provide insight into the molecular and cellular mechanisms of ASD. 2q23.1 deletion syndrome (causative gene, MBD5) is a recently identified genetic neurodevelopmental disorder associated with ASD. Mutations in MBD5 have been found in ASD cohorts. In this study, we provide a phenotypic update on the prevalent features of 2q23.1 deletion syndrome, which include severe intellectual disability, seizures, significant speech impairment, sleep disturbance, and autistic-like behavioral problems...
2015: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/25426169/intragenic-mbd5-familial-deletion-variant-does-not-negatively-impact-mbd5-mrna-expression
#20
Sureni V Mullegama, Sarah H Elsea
2q23.1 deletion syndrome is characterized by intellectual disability, speech impairment, seizures, disturbed sleep pattern, behavioral problems, and hypotonia. Core features of this syndrome are due to haploinsufficiency of MBD5. Deletions that include coding and noncoding exons show reduced MBD5 mRNA expression. We report a patient with a neurological and behavioral phenotype similar to 2q23.1 deletion syndrome with an inherited intronic deletion in the 5-prime untranslated region of MBD5. Our data show that this patient has normal MBD5 mRNA expression; therefore, this deletion is likely not causative for 2q23...
2014: Molecular Cytogenetics
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