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https://www.readbyqxmd.com/read/27906199/microduplication-of-the-arid1a-gene-causes-intellectual-disability-with-recognizable-syndromic-features
#1
Marie Bidart, Michèle El Atifi, Sarra Miladi, John Rendu, Véronique Satre, Pierre F Ray, Caroline Bosson, Françoise Devillard, Daphné Lehalle, Valérie Malan, Jeanne Amiel, Maria Antonietta Mencarelli, Margherita Baldassarri, Alessandra Renieri, Jill Clayton-Smith, Gaëlle Vieville, Julien Thevenon, Florence Amblard, François Berger, Pierre-Simon Jouk, Charles Coutton
PURPOSE: To determine whether duplication of the ARID1A gene is responsible for a new recognizable syndrome. METHODS: We describe four patients with a 1p36.11 microduplication involving ARID1A as identified by array-comparative genomic hybridization . We performed comparative transcriptomic analysis of patient-derived fibroblasts using RNA sequencing and evaluated the impact of ARID1A duplication on the cell cycle using fluorescence-activated cell sorting. Functional relationships between differentially expressed genes were investigated with ingenuity pathway analysis (IPA)...
December 1, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27822388/screening-for-subtelomeric-rearrangements-in-thai-patients-with-intellectual-disabilities-using-fish-and-review-of-literature-on-subtelomeric-fish-in-15-591-cases-with-intellectual-disabilities
#2
Chariyawan Charalsawadi, Jariya Khayman, Verayuth Praphanphoj, Pornprot Limprasert
We utilized fluorescence in situ hybridization (FISH) to screen for subtelomeric rearrangements in 82 Thai patients with unexplained intellectual disability (ID) and detected subtelomeric rearrangements in 5 patients. Here, we reported on a patient with der(20)t(X;20)(p22.3;q13.3) and a patient with der(3)t(X;3)(p22.3;p26.3). These rearrangements have never been described elsewhere. We also reported on a patient with der(10)t(7;10)(p22.3;q26.3), of which the same rearrangement had been reported in one literature...
2016: Genetics Research International
https://www.readbyqxmd.com/read/27817035/copy-number-variation-analysis-reveals-additional-variants-contributing-to-endometriosis-development
#3
Fernanda Mafra, Diego Mazzotti, Renata Pellegrino, Bianca Bianco, Caio Parente Barbosa, Hakon Hakonarson, Denise Christofolini
PURPOSE: Endometriosis is a gynecological disease influenced by multiple genetic and environmental factors. The aim of the current study was to use SNP-array technology to identify genomic aberrations that may possibly contribute to the development of endometriosis. METHODS: We performed an SNP-array genotyping of pooled DNA samples from both patients (n = 100) and controls (n = 50). Copy number variation (CNV) calling and association analyses were performed using PennCNV software...
November 5, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27774766/abdominal-paraganglioma-in-a-young-woman-with-1p36-deletion-syndrome
#4
Miki Murakoshi, Kei Takasawa, Masato Nishioka, Masahiro Asakawa, Kenichi Kashimada, Takanobu Yoshimoto, Toshiyuki Yamamoto, Kazuhiro Takekoshi, Yoshihiro Ogawa, Masayuki Shimohira
1p36 deletion syndrome is the most common terminal deletion syndrome, and the genomic regions that contribute to specific 1p36 deletion syndrome-related phenotypes were recently identified. Deletions in the 1p36 region have been documented in various tumor tissues, which indicates correlation between loss of heterozygosity of 1p36 and tumor development, and the existence of tumor suppressors in this region. Therefore, it was suspected that patients with 1p36 deletion syndrome have a higher risk of tumor development; however, only a few child cases of neuroblastoma with 1p36 deletion syndrome have been reported...
October 24, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27760566/miip-remodels-rac1-mediated-cytoskeleton-structure-in-suppression-of-endometrial-cancer-metastasis
#5
Yingmei Wang, Limei Hu, Ping Ji, Fei Teng, Wenyan Tian, Yuexin Liu, David Cogdell, Jinsong Liu, Anil K Sood, Russell Broaddus, Fengxia Xue, Wei Zhang
BACKGROUND: Endometrial carcinoma (EC) is one of the most common malignancies of the female reproductive system. Migration and invasion inhibitory protein (MIIP) gene was recently discovered candidate tumor suppress gene which located at chromosome 1p36.22. 1p36 deletion was found in many types of tumor including EC. In the present study, we will determine the role and mechanism of MIIP in EC metastasis. METHODS: Immunohistochemistry was used to measure MIIP expression in normal and EC tissue...
October 19, 2016: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/27741356/miip%C3%A2-haploinsufficiency-induces-chromosomal-instability-and-promotes-tumour-progression-in-colorectal-cancer
#6
Yan Sun, Ping Ji, Tao Chen, Xinhui Zhou, Da Yang, Yuhong Guo, Yuexin Liu, Limei Hu, Dianren Xia, Yanxue Liu, Asha S Multani, Ilya Shmulevich, Raju Kucherlapati, Scott Kopetz, Anil K Sood, Stanley R Hamilton, Baocun Sun, Wei Zhang
The gene encoding Migration and Invasion Inhibitory Protein (MIIP), located on 1p36.22, is a potential tumour suppressor gene in glioma. In this study, we aimed to explore the role and mechanism of action of MIIP in colorectal cancer (CRC). MIIP protein expression gradually decreased along the colorectal adenoma-carcinoma sequence and was negatively correlated with lymph node and distant metastasis in 526 colorectal tissue samples (P<0.05 for all). Analysis of The Cancer Genome Atlas (TCGA) data showed that decreased MIIP expression was significantly associated with MIIP hemizygous deletion (P=0...
October 14, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27665090/subtelomeric-copy-number-variations-the-importance-of-4p-4q-deletions-in-patients-with-congenital-anomalies-and-developmental-disability
#7
Gil M Novo-Filho, Marília M Montenegro, Évelin A Zanardo, Roberta L Dutra, Alexandre T Dias, Flavia B Piazzon, Taís V M M Costa, Amom M Nascimento, Rachel S Honjo, Chong A Kim, Leslie D Kulikowski
The most prevalent structural variations in the human genome are copy number variations (CNVs), which appear predominantly in the subtelomeric regions. Variable sizes of 4p/4q CNVs have been associated with several different psychiatric findings and developmental disability (DD). We analyzed 105 patients with congenital anomalies (CA) and developmental and/or intellectual disabilities (DD/ID) using MLPA subtelomeric specific kits (P036 /P070) and 4 of them using microarrays. We found abnormal subtelomeric CNVs in 15 patients (14...
September 24, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27641506/integrative-genomic-and-network-analysis-identified-novel-genes-associated-with-the-development-of-advanced-cervical-squamous-cell-carcinoma
#8
Anirban Roychowdhury, Sudip Samadder, Pijush Das, Sapan Mandloi, Sankar Addya, Chandraditya Chakraborty, Partha Sarathi Basu, Ranajit Mondal, Anup Roy, Saikat Chakrabarti, Susanta Roychoudhury, Chinmay Kumar Panda
BACKGROUND: CSCC is one of the most common cancer affecting women globally. Though it is caused by the infection of hrHPV but long latency period for malignant outcome in only a subset of hrHPV infected women indicates involvement of additional alterations, primarily CNVs. Here, we showed how CNVs played a crucial role in development of advanced tumors (stage III/IV) in Indian patients. METHODS: Initially, high-resolution CGH-SNP microarray analysis pointed out frequent CNVs followed by significantly altered genes...
September 15, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27629806/genomic-findings-in-patients-with-clinical-suspicion-of-22q11-2-deletion-syndrome
#9
Magdalena Koczkowska, Jolanta Wierzba, Robert Śmigiel, Maria Sąsiadek, Magdalena Cabała, Ryszard Ślężak, Mariola Iliszko, Iwona Kardaś, Janusz Limon, Beata S Lipska-Ziętkiewicz
Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical presentation. Patients usually harbor a 1.5 to 3 Mb hemizygous deletion at chromosome 22q11.2, resulting in pathognomic TBX1, CRKL and/or MAPK1 haploinsufficiency. However, there are some individuals with clinical features resembling the syndrome who are eventually diagnosed with genomic disorders affecting other chromosomal regions. The objective of this study was to evaluate the additive value of high-resolution array-CGH testing in the cohort of 41 patients with clinical features of 22q11...
September 14, 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27604554/identification-of-novel-susceptibility-markers-for-the-risk-of-overall-breast-cancer-as-well-as-subtypes-defined-by-hormone-receptor-status-in-the-chinese-population
#10
Zhiping Deng, Hua Yang, Qiufang Liu, Zhouquan Wang, Tian Feng, Yongri Ouyang, Tianbo Jin, Hong Ren
Genome-wide association studies (GWAS) have identified common variants associated with breast cancer (BC) risk at multiple genetic loci. Above all, accumulated evidence suggests that inherited risk variants may vary in BC subtypes defined by estrogen receptor (ER) or progesterone receptor (PR) status. However, the underlying susceptibility of some variants for BC subtypes has not been well investigated in the Chinese population. Our objective was to explore the association among 23 GWAS-identified single-nucleotide polymorphisms (SNPs) and overall BC incidence, as well as its subtypes, in Chinese women...
September 8, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27476799/novel-genetic-variants-associated-with-increased-vertebral-volumetric-bmd-reduced-vertebral-fracture-risk-and-increased-expression-of-slc1a3-and-ephb2
#11
Carrie M Nielson, Ching-Ti Liu, Albert V Smith, Cheryl L Ackert-Bicknell, Sjur Reppe, Johanna Jakobsdottir, Christina Wassel, Thomas C Register, Ling Oei, Nerea Alonso, Edwin H Oei, Neeta Parimi, Elizabeth J Samelson, Mike A Nalls, Joseph Zmuda, Thomas Lang, Mary Bouxsein, Jeanne Latourelle, Melina Claussnitzer, Kristin Siggeirsdottir, Priya Srikanth, Erik Lorentzen, Liesbeth Vandenput, Carl Langefeld, Laura Raffield, Greg Terry, Amanda J Cox, Matthew A Allison, Michael H Criqui, Don Bowden, M Arfan Ikram, Dan Mellström, Magnus K Karlsson, John Carr, Matthew Budoff, Caroline Phillips, L Adrienne Cupples, Wen-Chi Chou, Richard H Myers, Stuart H Ralston, Kaare M Gautvik, Peggy M Cawthon, Steven Cummings, David Karasik, Fernando Rivadeneira, Vilmundur Gudnason, Eric S Orwoll, Tamara B Harris, Claes Ohlsson, Douglas P Kiel, Yi-Hsiang Hsu
Genome-wide association studies (GWASs) have revealed numerous loci for areal bone mineral density (aBMD). We completed the first GWAS meta-analysis (n = 15,275) of lumbar spine volumetric BMD (vBMD) measured by quantitative computed tomography (QCT), allowing for examination of the trabecular bone compartment. SNPs that were significantly associated with vBMD were also examined in two GWAS meta-analyses to determine associations with morphometric vertebral fracture (n = 21,701) and clinical vertebral fracture (n = 5893)...
December 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/27440996/variation-in-ptchd2-crisp3-nap1l4-fscb-and-ap3b2-associated-with-spherical-equivalent
#12
Fei Chen, Priya Duggal, Barbara E K Klein, Kristine E Lee, Barbara Truitt, Ronald Klein, Sudha K Iyengar, Alison P Klein
PURPOSE: Ocular refraction is measured in spherical equivalent as the power of the external lens required to focus images on the retina. Myopia (nearsightedness) and hyperopia (farsightedness) are the most common refractive errors, and the leading causes of visual impairment and blindness in the world. The goal of this study is to identify rare and low-frequency variants that influence spherical equivalent. METHODS: We conducted variant-level and gene-level quantitative trait association analyses for mean spherical equivalent, using data from 1,560 individuals in the Beaver Dam Eye Study...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27385960/the-growing-complexity-of-the-monosomy-1p36-syndrome
#13
Martin Poot
No abstract text is available yet for this article.
May 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27264820/-prenatal-diagnosis-of-1p36-3-microdeletion-in-a-fetus-with-complex-heart-defect
#14
Jianzhu Wu, Zhiming He, Shaobin Lin, Yingjun Xie, Baojiang Chen, Junhong Chen
OBJECTIVE: To analyze a fetus presenting with complex heart defect and assess the recurrence risk. METHODS: Conventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-based array (SNP-array) were used to analyze the fetus and his parents. RESULTS: SNP-array has detected a 6.9 Mb microdeletion at 1p36.33-p36.23 in the fetus. Chromosomal and FISH analyses indicated that the father of the fetus had a karyotype of 46,XY,t(1;14)(p36...
June 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27262749/-a-case-of-partial-1p36-1-deletion-and-partial-trisomy-6p-diagnosed-by-karyotype
#15
Monica Fernández Pineda, Julián Ramírez-Cheyne, Carolina Isaza, Wilmar Saldarriaga
: The deletion of chromosomal region 1p36 is one of the most common sub-telomeric microdeletion syndromes and has distinctive dysmorphic features. On the other hand, partial trisomy of the short arm of chromosome 6 is a rare chromosomal abnormality with a variable phenotype. OBJECTIVE: To report a case with both chromosome abnormalities, and to highlight the importance of the karyotype as a diagnostic tool in dysmorphology. CLINICAL CASE: The case of is presented of a two month-old infant with several craniofacial anomalies, neck haemangioma, sacral pit, rhizomelic shortening, small hands and feet, left unilateral cryptorchidism, and hypotonia...
June 1, 2016: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/27257180/genome-wide-analysis-of-pediatric-type-follicular-lymphoma-reveals-low-genetic-complexity-and-recurrent-alterations-of-tnfrsf14-gene
#16
Janine Schmidt, Shunyou Gong, Teresa Marafioti, Barbara Mankel, Blanca Gonzalez-Farre, Olga Balagué, Ana Mozos, José Cabeçadas, Jon van der Walt, Daniela Hoehn, Andreas Rosenwald, German Ott, Stefan Dojcinov, Caoimhe Egan, Ferran Nadeu, Joan Enric Ramis-Zaldívar, Guillem Clot, Carmen Bárcena, Vanesa Pérez-Alonso, Volker Endris, Roland Penzel, Carmen Lome-Maldonado, Irina Bonzheim, Falko Fend, Elias Campo, Elaine S Jaffe, Itziar Salaverria, Leticia Quintanilla-Martinez
Pediatric-type follicular lymphoma (PTFL) is a variant of follicular lymphoma (FL) with distinctive clinicopathological features. Patients are predominantly young males presenting with localized lymphadenopathy; the tumor shows high-grade cytology and lacks both BCL2 expression and t(14;18) translocation. The genetic alterations involved in the pathogenesis of PTFL are unknown. Therefore, 42 PTFL (40 males and 2 females; mean age, 16 years; range, 5-31) were genetically characterized. For comparison, 11 cases of conventional t(14:18)(-) FL in adults were investigated...
August 25, 2016: Blood
https://www.readbyqxmd.com/read/27248180/the-genetic-landscape-of-dural-marginal-zone-lymphomas
#17
Karthik A Ganapathi, Vaidehi Jobanputra, Fabio Iwamoto, Preti Jain, Jinli Chen, Luciano Cascione, Odelia Nahum, Brynn Levy, Yi Xie, Pallavi Khattar, Daniela Hoehn, Francesco Bertoni, Vundavalli V Murty, Stefania Pittaluga, Elaine S Jaffe, Bachir Alobeid, Mahesh M Mansukhani, Govind Bhagat
The dura is a rare site of involvement by marginal zone lymphoma (MZL) and the biology of dural MZL is not well understood. We performed genome-wide DNA copy number and targeted mutational analysis of 14 dural MZL to determine the genetic landscape of this entity. Monoallelic and biallelic inactivation of TNFAIP3 by mutation (n=5) or loss (n=1) was observed in 6/9 (67%) dural MZL exhibiting plasmacytic differentiation, including 3 IgG4+ cases. In contrast, activating NOTCH2 mutations were detected in 4/5 (80%) dural MZL displaying variable monocytoid morphology...
May 27, 2016: Oncotarget
https://www.readbyqxmd.com/read/27244217/association-of-a-locus-in-the-camta1-gene-with-survival-in-patients-with-sporadic-amyotrophic-lateral-sclerosis
#18
Isabella Fogh, Kuang Lin, Cinzia Tiloca, James Rooney, Cinzia Gellera, Frank P Diekstra, Antonia Ratti, Aleksey Shatunov, Michael A van Es, Petroula Proitsi, Ashley Jones, William Sproviero, Adriano Chiò, Russell Lewis McLaughlin, Gianni Sorarù, Lucia Corrado, Daniel Stahl, Roberto Del Bo, Cristina Cereda, Barbara Castellotti, Jonathan D Glass, Steven Newhouse, Richard Dobson, Bradley N Smith, Simon Topp, Wouter van Rheenen, Vincent Meininger, Judith Melki, Karen E Morrison, Pamela J Shaw, P Nigel Leigh, Peter M Andersen, Giacomo P Comi, Nicola Ticozzi, Letizia Mazzini, Sandra D'Alfonso, Bryan J Traynor, Philip Van Damme, Wim Robberecht, Robert H Brown, John E Landers, Orla Hardiman, Cathryn M Lewis, Leonard H van den Berg, Christopher E Shaw, Jan H Veldink, Vincenzo Silani, Ammar Al-Chalabi, John Powell
IMPORTANCE: Amyotrophic lateral sclerosis (ALS) is a devastating adult-onset neurodegenerative disorder with a poor prognosis and a median survival of 3 years. However, a significant proportion of patients survive more than 10 years from symptom onset. OBJECTIVE: To identify gene variants influencing survival in ALS. DESIGN, SETTING, AND PARTICIPANTS: This genome-wide association study (GWAS) analyzed survival in data sets from several European countries and the United States that were collected by the Italian Consortium for the Genetics of ALS and the International Consortium on Amyotrophic Lateral Sclerosis Genetics...
July 1, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27192566/the-tnf-receptor-superfamily-in-co-stimulating-and-co-inhibitory-responses
#19
REVIEW
Lindsay K Ward-Kavanagh, Wai Wai Lin, John R Šedý, Carl F Ware
Cytokines related to tumor necrosis factor (TNF) provide a communication network essential for coordinating multiple cell types into an effective host defense system against pathogens and malignant cells. The pathways controlled by the TNF superfamily differentiate both innate and adaptive immune cells and modulate stromal cells into microenvironments conducive to host defenses. Members of the TNF receptor superfamily activate diverse cellular functions from the production of type 1 interferons to the modulation of survival of antigen-activated T cells...
May 17, 2016: Immunity
https://www.readbyqxmd.com/read/27144803/is-1p36-deletion-associated-with-anterior-body-wall-defects
#20
Medis Çöllü, Şirin Yüksel, Başak Kumbasar Şirin, Latif Abbasoğlu, Yasemin Alanay
Epispadias and exstrophy of the cloaca, also known as OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects), respectively constitute the most benign and severe ends of the bladder exstrophy-epispadias complex (BEEC) spectrum. In 2009, El-Hattab et al. reported the first patient with OEIS complex associated with a chromosome 1p36 deletion. Here we report a second patient with 1p36 deletion who also has classic bladder exstrophy, supporting the possible role of genes in this region in the development of BEEC...
July 2016: American Journal of Medical Genetics. Part A
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