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https://www.readbyqxmd.com/read/29130988/recurrent-copy-number-variants-associated-with-syndromic-short-stature-of-unknown-cause
#1
Thais K Homma, Ana C V Krepischi, Tatiane K Furuya, Rachel S Honjo, Alexsandra C Malaquias, Debora R Bertola, Silvia S Costa, Ana P Canton, Rosimeire A Roela, Bruna L Freire, Chong A Kim, Carla Rosenberg, Alexander A L Jorge
BACKGROUND/AIMS: Genetic imbalances are responsible for many cases of short stature of unknown etiology. This study aims to identify recurrent pathogenic copy number variants (CNVs) in patients with syndromic short stature of unknown cause. METHODS: We selected 229 children with short stature and dysmorphic features, developmental delay, and/or intellectual disability, but without a recognized syndrome. All patients were evaluated by chromosomal microarray (array-based comparative genomic hybridization/single nucleotide polymorphism array)...
November 9, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28761347/genetic-and-epigenetic-mechanisms-of-epilepsy-a-review
#2
REVIEW
Tian Chen, Mohan Giri, Zhenyi Xia, Yadu Nanda Subedi, Yan Li
Epilepsy is a common episodic neurological disorder or condition characterized by recurrent epileptic seizures, and genetics seems to play a key role in its etiology. Early linkage studies have localized multiple loci that may harbor susceptibility genes to epilepsy, and mutational analyses have detected a number of mutations involved in both ion channel and nonion channel genes in patients with idiopathic epilepsy. Genome-wide studies of epilepsy have found copy number variants at 2q24.2-q24.3, 7q11.22, 15q11...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28737552/two-familial-intrachromosomal-insertions-with-maternal-dup-6-p22-3p25-3-or-dup-2-q24-2q32-1-in-recombinant-offspring
#3
María G Domínguez, Horacio Rivera, Adriana Aguilar-Lemarroy, Luis F Jave-Suarez, Azubel Ramírez-Velazco, Isaura A González-Ramos, Patricio Barros-Núñez, Miriam Partida-Pérez, Bianca E Gutiérrez-Amavizca, Aniel Jl Brambila-Tapia, Luis E Figuera
In this study, we describe two patients with a recombinant chromosome secondary to a maternal intrachromosomal insertion. Patient 1 was a girl with dup(6)(p22.3p25.3). Patient 2 was a boy with dup(2)(q24.2q32.1). Both familial rearrangements were characterized by means of GTG-bands, fluorescence in-situ hybridization, and comparative genomic hybridization microarray analyses. Patient 1 had an ∼23 Mb gain that involved the bands 6p22.3-6p25.3. Patient 2 had an ∼23 Mb gain (cytobands 2q24.2-2q32.1) and a further ∼1...
July 21, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28544326/haploinsufficiency-of-nr4a2-is-associated-with-a-neurodevelopmental-phenotype-with-prominent-language-impairment
#4
Miriam S Reuter, Mandy Krumbiegel, Gregor Schlüter, Arif B Ekici, André Reis, Christiane Zweier
Non-recurrent deletions in 2q24.1, minimally overlapping two genes, NR4A2 and GPD2, were recently described in individuals with language impairment and behavioral and cognitive symptoms. We herewith report on a female patient with a similar phenotype of severe language and mild cognitive impairment, in whom we identified a de novo deletion covering only NR4A2. NR4A2 encodes a transcription factor highly expressed in brain regions critical for speech and language and implicated in dopaminergic neuronal development...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28497004/progressive-familial-intrahepatic-cholestasis-type-2-in-an-indian-child
#5
Ira Shah, Sujeet Chilkar
Progressive familial intrahepatic cholestasis (PFIC) is a chronic cholestasis syndrome that begins in infancy and usually progresses to cirrhosis within the first decade of life. There are three varieties of PFIC described: PFIC-1 occurs due to mutations in the ATP8B1 gene mapped to 18q21.31, PFIC-2 due to mutations in ABCB11 mapped to 2q24, and PFIC-3 due to mutations in ABCB4 located on 7q21.12. We report an Indian child whose mutation analysis was suggestive of PFIC-2. He underwent a biliary diversion at 3½ years of age but subsequently died secondary to massive hematemesis...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28422132/haploinsufficiency-for-ankrd11-flanking-genes-makes-the-difference-between-kbg-and-16q24-3-microdeletion-syndromes-12-new-cases
#6
Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon, Orsetta Zuffardi
16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28039919/hearing-impairment-in-a-female-infant-with-interstitial-deletion-of-2q24-1q24-3
#7
Hiroaki Ono, Kenji Kurosawa, Nobuaki Wakamatsu, Shin Masuda
Patients with interstitial deletions in 2q24.1q24.3 are rarely reported. These patients manifest a variety of clinical features in addition to intellectual disability, depending on the size and location of the deletion. We report a female patient with interstitial deletion of 5.5 Mb in 2q24.1q24.3, who showed intrauterine growth retardation, hypotonia, global developmental delay, microcephaly, and characteristic facial appearance. In addition, she had hearing impairment, with no auditory brainstem response...
December 30, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27957763/possible-genes-responsible-for-developmental-delay-observed-in-patients-with-rare-2q23q24-microdeletion-syndrome-literature-review-and-description-of-an-additional-patient
#8
Keiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
Cases of 2q23q24 microdeletion syndrome are rare. Patients with chromosomal deletions in this region often show language impairment and/or developmental delay of variable severity. Previous genotype-phenotype correlation study suggested GALNT13 and KCNJ3 as possible candidate genes for such phenotypes. We identified a new overlapping deletion in a patient with severe developmental delay. The identified deletion extended toward the distal 2q24.1 region, and more severe phenotypes in the present patient were considered to be related to the additionally deleted genes including NR4A2 and GPD2...
December 13, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27667142/a-neonate-with-a-unique-non-down-syndrome-transient-proliferative-megakaryoblastic-disease
#9
Eline J M Bertrums, Arjan Buijs, Martine van Grotel, Natasja Dors, Jasmijn D E de Rooij, Valerie de Haas, Sanne Hopman, Marjolijn C J Jongmans, C M Zwaan, Marry M van den Heuvel-Eibrink
Transient myeloproliferative disorder (TMD) is a leukemia type that occurs typically in newborns. In Down syndrome, TMD is referred to as transient abnormal myelopoiesis (TAM).(32) Recently, transientness has also been reported in acute myeloid leukemia patients with germline trisomy 21 mosaicism, and even in cases with somatic trisomy 21, with or without GATA1 mutations. TMD cases without trisomy 21 are rare, and recurrent genetic aberrations that aid in clinical decision-making are scarcely described. We describe here a TMD patient without trisomy 21 or GATA1 mutation in whom single-nucleotide polymorphism analysis of leukemic blasts revealed a novel combined submicroscopic deletion (5q31...
March 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27595042/scn2a-related-early-onset-epileptic-encephalopathy-responsive-to-phenobarbital
#10
Fiona M Baumer, Jurriaan M Peters, Christelle M El Achkar, Phillip L Pearl
Voltage-gated sodium channels (Nav) are critical regulators of neuronal excitability. Genes for the α-subunits of three sodium channel subtypes-SCN1A, SCN2A, and SCN3A-are all located on chromosome 2q24. A full-term boy with an unremarkable birth history presented at 1 month of age with unusual movements that had started on day of life 2. Exam was notable for lack of visual attention, hypotonia, and hyperreflexia. Electroencephalogram (EEG) showed an invariant burst suppression with multifocal spikes, ictal episodes with bicycling movements associated with buildups of rhythmic activity, and epileptic spasms...
March 2016: Journal of Pediatric Epilepsy
https://www.readbyqxmd.com/read/27569545/rare-inherited-and-de-novo-cnvs-reveal-complex-contributions-to-asd-risk-in-multiplex-families
#11
Virpi M Leppa, Stephanie N Kravitz, Christa Lese Martin, Joris Andrieux, Cedric Le Caignec, Dominique Martin-Coignard, Christina DyBuncio, Stephan J Sanders, Jennifer K Lowe, Rita M Cantor, Daniel H Geschwind
Rare mutations, including copy-number variants (CNVs), contribute significantly to autism spectrum disorder (ASD) risk. Although their importance has been established in families with only one affected child (simplex families), the contribution of both de novo and inherited CNVs to ASD in families with multiple affected individuals (multiplex families) is less well understood. We analyzed 1,532 families from the Autism Genetic Resource Exchange (AGRE) to assess the impact of de novo and rare CNVs on ASD risk in multiplex families...
September 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27153334/whole-gene-duplication-of-scn2a-and-scn3a-is-associated-with-neonatal-seizures-and-a-normal-intellectual-development
#12
A-C Thuresson, G Van Buggenhout, F Sheth, M Kamate, J Andrieux, J Clayton Smith, C Soussi Zander
Duplications at 2q24.3 encompassing the voltage-gated sodium channel gene cluster are associated with early onset epilepsy. All cases described in the literature have presented in addition with different degrees of intellectual disability, and have involved neighbouring genes in addition to the sodium channel gene cluster. Here, we report eight new cases with overlapping duplications at 2q24 ranging from 0.05 to 7.63 Mb in size. Taken together with the previously reported cases, our study suggests that having an extra copy of SCN2A has an effect on epilepsy pathogenesis, causing benign familial infantile seizures which eventually disappear at the age of 1-2 years...
January 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27020790/interstitial-11q24-deletion-a-new-case-and-review-of-the-literature
#13
REVIEW
Elisa Tassano, Sara Janis, Alberto Canepa, Elisabetta Zanotto, Corrado Torello, Giorgio Gimelli, Cristina Cuoco
We describe a 19-month-old male presenting with right stenotic megaureter, anemia and thrombocytopenia, cardiac and ophthalmologic abnormalities. Analysis with array-based comparative genomic hybridization (aCGH) revealed an interstitial deletion of about 2.4 Mb of chromosome 11q24.2q24.3. We compared the phenotype of our patient with that of recently reported patients studied by aCGH, who showed an overlapping deletion. We also analysed the gene content of the deleted region in order to investigate the possible involvement of specific genes in the clinical phenotype...
August 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/26892345/de-novo-14q24-2q24-3-microdeletion-including-ift43-is-associated-with-intellectual-disability-skeletal-anomalies-cardiac-anomalies-and-myopia
#14
Marijn F Stokman, Machteld M Oud, Ellen van Binsbergen, Gisela G Slaats, Nayia Nicolaou, Kirsten Y Renkema, Isaac J Nijman, Ronald Roepman, Rachel H Giles, Heleen H Arts, Nine V A M Knoers, Mieke M van Haelst
We report an 11-year-old girl with mild intellectual disability, skeletal anomalies, congenital heart defect, myopia, and facial dysmorphisms including an extra incisor, cup-shaped ears, and a preauricular skin tag. Array comparative genomic hybridization analysis identified a de novo 4.5-Mb microdeletion on chromosome 14q24.2q24.3. The deleted region and phenotype partially overlap with previously reported patients. Here, we provide an overview of the literature on 14q24 microdeletions and further delineate the associated phenotype...
June 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26822151/genome-wide-association-study-and-targeted-metabolomics-identifies-sex-specific-association-of-cps1-with-coronary-artery-disease
#15
Jaana A Hartiala, W H Wilson Tang, Zeneng Wang, Amanda L Crow, Alexandre F R Stewart, Robert Roberts, Ruth McPherson, Jeanette Erdmann, Christina Willenborg, Stanley L Hazen, Hooman Allayee
Metabolites derived from dietary choline and L-carnitine, such as trimethylamine N-oxide and betaine, have recently been identified as novel risk factors for atherosclerosis in mice and humans. We sought to identify genetic factors associated with plasma betaine levels and determine their effect on risk of coronary artery disease (CAD). A two-stage genome-wide association study (GWAS) identified two significantly associated loci on chromosomes 2q34 and 5q14.1. The lead variant on 2q24 (rs715) localizes to carbamoyl-phosphate synthase 1 (CPS1), which encodes a mitochondrial enzyme that catalyses the first committed reaction and rate-limiting step in the urea cycle...
January 29, 2016: Nature Communications
https://www.readbyqxmd.com/read/26594242/recombinant-chromosome-with-partial-14-q-trisomy-due-to-maternal-pericentric-inversion
#16
Hande Küçük Kurtulgan, Leyla Özer, Malik Ejder Yıldırım, Evrim Ünsal, Süleyman Aktuna, Volkan Baltacı, Nejmiye Akkuş, İlhan Sezgin
BACKGROUND: 14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet. CASE PRESENTATION: Here we reported a 7 years old female patient with recombinant chromosome characterized by 14 q duplication and originated from maternal pericentric inversion of chromosome 14. Principal clinical findings of the child include developmental delay, microcephaly, hypertelorism, low set ears, clinodactyly of fifth fingers, hypotonia, telecanthus and cardiac malformation...
2015: Molecular Cytogenetics
https://www.readbyqxmd.com/read/26405073/shared-genetic-basis-for-type-1-diabetes-islet-autoantibodies-and-autoantibodies-associated-with-other-immune-mediated-diseases-in-families-with-type-1-diabetes
#17
Caroline A Brorsson, Flemming Pociot
Type 1 diabetes (T1D) is a polygenic autoimmune disease that is often present with autoantibodies directed against pancreatic islet proteins. Many genetic susceptibility loci are shared with other autoimmune or immune-mediated diseases that also cosegregate in families with T1D. The aim of this study was to investigate whether susceptibility loci identified in genome-wide association studies (GWAS) of T1D were also associated with autoantibody positivity in individuals with diabetes. Fifty single nucleotide polymorphisms (SNPs) were genotyped in 6,556 multiethnic cases collected by the Type 1 Diabetes Genetics Consortium (T1DGC)...
October 2015: Diabetes Care
https://www.readbyqxmd.com/read/26090850/exonic-re-sequencing-of-the-chromosome-2q24-3-parkinson-s-disease-locus
#18
Catherine Labbé, Kotaro Ogaki, Oswaldo Lorenzo-Betancor, Minerva M Carrasquillo, Michael G Heckman, Allan McCarthy, Alexandra I Soto-Ortolaza, Ronald L Walton, Timothy Lynch, Joanna Siuda, Grzegorz Opala, Anna Krygowska-Wajs, Maria Barcikowska, Krzysztof Czyzewski, Dennis W Dickson, Ryan J Uitti, Zbigniew K Wszolek, Owen A Ross
Genome-wide association studies (GWAS) in Parkinson's disease (PD) have identified over 20 genomic regions associated with disease risk. Many of these loci include several candidate genes making it difficult to pinpoint the causal gene. The locus on chromosome 2q24.3 encompasses three genes: B3GALT1, STK39, and CERS6. In order to identify if the causal variants are simple missense changes, we sequenced all 31 exons of these three genes in 187 patients with PD. We identified 13 exonic variants including four non-synonymous and three insertion/deletion variants (indels)...
2015: PloS One
https://www.readbyqxmd.com/read/25890600/identification-of-novel-genetic-markers-of-breast-cancer-survival
#19
Qi Guo, Marjanka K Schmidt, Peter Kraft, Sander Canisius, Constance Chen, Sofia Khan, Jonathan Tyrer, Manjeet K Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Michael Lush, Siddhartha Kar, Jonathan Beesley, Alison M Dunning, Mitul Shah, Kamila Czene, Hatef Darabi, Mikael Eriksson, Diether Lambrechts, Caroline Weltens, Karin Leunen, Stig E Bojesen, Børge G Nordestgaard, Sune F Nielsen, Henrik Flyger, Jenny Chang-Claude, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Carl Blomqvist, Kristiina Aittomäki, Rainer Fagerholm, Taru A Muranen, Fergus J Couch, Janet E Olson, Celine Vachon, Irene L Andrulis, Julia A Knight, Gord Glendon, Anna Marie Mulligan, Annegien Broeks, Frans B Hogervorst, Christopher A Haiman, Brian E Henderson, Fredrick Schumacher, Loic Le Marchand, John L Hopper, Helen Tsimiklis, Carmel Apicella, Melissa C Southey, Angela Cox, Simon S Cross, Malcolm W R Reed, Graham G Giles, Roger L Milne, Catriona McLean, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Mervi Grip, Maartje J Hooning, Antoinette Hollestelle, John W M Martens, Ans M W van den Ouweland, Federik Marme, Andreas Schneeweiss, Rongxi Yang, Barbara Burwinkel, Jonine Figueroa, Stephen J Chanock, Jolanta Lissowska, Elinor J Sawyer, Ian Tomlinson, Michael J Kerin, Nicola Miller, Hermann Brenner, Aida Karina Dieffenbach, Volker Arndt, Bernd Holleczek, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Jingmei Li, Judith S Brand, Keith Humphreys, Peter Devilee, Rob A E M Tollenaar, Caroline Seynaeve, Paolo Radice, Paolo Peterlongo, Bernardo Bonanni, Paolo Mariani, Peter A Fasching, Matthias W Beckmann, Alexander Hein, Arif B Ekici, Georgia Chenevix-Trench, Rosemary Balleine, Kelly-Anne Phillips, Javier Benitez, M Pilar Zamora, Jose Ignacio Arias Perez, Primitiva Menéndez, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska-Bieniek, Katarzyna Durda, Ute Hamann, Maria Kabisch, Hans Ulrich Ulmer, Thomas Rüdiger, Sara Margolin, Vessela Kristensen, Silje Nord, D Gareth Evans, Jean E Abraham, Helena M Earl, Louise Hiller, Janet A Dunn, Sarah Bowden, Christine Berg, Daniele Campa, W Ryan Diver, Susan M Gapstur, Mia M Gaudet, Susan E Hankinson, Robert N Hoover, Anika Hüsing, Rudolf Kaaks, Mitchell J Machiela, Walter Willett, Myrto Barrdahl, Federico Canzian, Suet-Feung Chin, Carlos Caldas, David J Hunter, Sara Lindstrom, Montserrat García-Closas, Per Hall, Douglas F Easton, Diana M Eccles, Nazneen Rahman, Heli Nevanlinna, Paul D P Pharoah
BACKGROUND: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be because of germline genetic variation. We aimed to identify genetic markers associated with breast cancer-specific survival. METHODS: We conducted a large meta-analysis of studies in populations of European ancestry, including 37954 patients with 2900 deaths from breast cancer. Each study had been genotyped for between 200000 and 900000 single nucleotide polymorphisms (SNPs) across the genome; genotypes for nine million common variants were imputed using a common reference panel from the 1000 Genomes Project...
May 2015: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/25843248/three-patients-manifesting-early-infantile-epileptic-spasms-associated-with-2q24-3-microduplications
#20
Shinsaku Yoshitomi, Yukitoshi Takahashi, Mamiko Ishizuka, Tokito Yamaguchi, Akito Watanabe, Hirosato Nasu, Yuki Ueda, Hideyuki Ohtani, Hiroko Ikeda, Katsumi Imai, Hideo Shigematsu, Yushi Inoue, Yoshihiro Tanahashi, Kaori Aiba, Hodaka Ohta, Shino Shimada, Toshiyuki Yamamoto
BACKGROUND: Recent development of genetic analyses enabled us to reveal underlying genetic causes of the patients with epileptic encephalopathy in infancy. Mutations of voltage-gated sodium channel type I alpha subunit gene (SCN1A) are to be causally related with several phenotypes of epilepsy, generalized epilepsy with febrile seizure plus (GEFS+), Dravet syndrome, and other infantile epileptic encephalopathies. In addition to SCN1A, contiguous genes such as SCN2A and SCN3A in 2q24.3 are also reported to have contribution to epileptic seizures...
October 2015: Brain & Development
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