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3 results on '"chromosome 12q15"'

1. CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome.

Author

Uehara, Tomoko, Takenouchi, Toshiki, Yamaguchi, Yu, Daimon, Yumi, Suzuki, Hisato, Sakaguchi, Yuri, and Kosaki, Kenjiro

Abstract

Chromosome 12q15 microdeletion syndrome is characterized by intellectual disability and dysmorphic facial features, but the associations between each of the deleted genes and the phenotypes of 12q15 microdeletion syndrome remain unclear. Recently, the smallest region of overlap in 16 previously reported patients was used to define three candidate genes for the 12q15 microdeletion syndrome: CNOT2, KCNMB4, and PTPRB. Among these three candidate genes, CNOT2 maintains the structural integrity of the carbon catabolite repressor 4 (CCR4)‐negative on TATA (NOT) complex, which plays a key role in regulating global gene expression, and is essential for the enzymatic activity of the CCR4‐NOT complex. Disruption of the CCR4‐NOT complex results in dysregulation of global gene expression, and is associated with various human disease processes, including neuronal diseases. Therefore, CNOT2 haploinsufficiency might account for the neurological features of the 12q15 microdeletion syndrome. Herein, we document a 12‐year‐old female patient with mild intellectual disability and multiple structural abnormalities including cleft lip and palate and 2–3 toe syndactyly. She exhibited dysmorphic facial features such as upslanting and short palpebral fissures, micrognathia, low‐set ears, and hypoplastic antihelix. A microarray analysis showed a de novo 1.32‐Mb deletion within 12q15 that included CNOT2 and 14 other genes. Remapping of the 12q15 deletion region in the 16 previously reported patients together with that in the newly identified patient indicated that CNOT2 is the only gene that is commonly deleted. These findings suggest that CNOT2 is the prime candidate for the neurological phenotypes of the 12q15 microdeletion syndrome. [ABSTRACT FROM AUTHOR]

Published
2019
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2. Common variants at 12q15 and 12q24 are associated with infant head circumference

Author

Taal, H Rob, Pourcain, Beate St, Geller, Frank, Davis, Oliver S P, Elliott, Paul, Evans, David M, Feenstra, Bjarke, Flexeder, Claudia, Frayling, Tim, Freathy, Rachel M, Gaillard, Romy, Groen-Blokhuis, Maria, Guxens, Mònica, Goh, Liang-Kee, Haworth, Claire M A, Hadley, Dexter, Hedebrand, Johannes, Hinney, Anke, Hirschhorn, Joel N, Holloway, John W, Holst, Claus, Hottenga, Jouke Jan, Cousminer, Diana L, Horikoshi, Momoko, Huikari, Ville, Hypponen, Elina, Iñiguez, Carmen, Kaakinen, Marika, Kilpeläinen, Tuomas O, Kirin, Mirna, Kowgier, Matthew, Lakka, Hanna-Maaria, Lange, Leslie A, Kerkhof, Marjan, Lawlor, Debbie A, Lehtimäki, Terho, Lewin, Alex, Lindgren, Cecilia, Lindi, Virpi, Maggi, Reedik, Marsh, Julie, Middeldorp, Christel, Millwood, Iona, Mook-Kanamori, Dennis O, Timpson, Nicholas J, Murray, Jeffrey C, Nivard, Michel, Nohr, Ellen Aagaard, Ntalla, Ioanna, Oken, Emily, O'Reilly, Paul F, Palmer, Lyle J, Panoutsopoulou, Kalliope, Pararajasingham, Jennifer, Prokopenko, Inga, Ikram, M Arfan, Rodriguez, Alina, Salem, Rany M, Sebert, Sylvain, Siitonen, Niina, Sovio, Ulla, St Pourcain, Beate, Strachan, David P, Sunyer, Jordi, Teo, Yik-Ying, Beilin, Lawrence J, Thiering, Elisabeth, Tiesler, Carla, Uitterlinden, Andre G, Valcárcel, Beatriz, Warrington, Nicole M, White, Scott, Willemsen, Gonneke, Yaghootkar, Hanieh, Zeggini, Eleftheria, Boomsma, Dorret I, Bønnelykke, Klaus, Cooper, Cyrus, Estivill, Xavier, Gillman, Matthew, Grant, Struan F A, Hakonarson, Hakon, Hattersley, Andrew T, Heinrich, Joachim, Hocher, Berthold, Jaddoe, Vincent W V, Jarvelin, Marjo-Riitta, Buxton, Jessica L, Lakka, Timo A, McCarthy, Mark I, Melbye, Mads, Mohlke, Karen L, Dedoussis, George V, Ong, Ken K, Pearson, Ewan R, Pennell, Craig E, Price, Thomas S, Power, Chris, Charoen, Pimphen, Raitakari, Olli T, Saw, Seang-Mei, Scherag, Andre, Simell, Olli, Sørensen, Thorkild I A, Widen, Elisabeth, Wilson, James F, Ang, Wei, van Beijsterveldt, Toos, Chawes, Bo Lund Krogsgaard, Bergen, Nienke, Benke, Kelly, Berry, Diane, Bradfield, Jonathan P, Coin, Lachlan, Das, Shikta, Eriksson, Johan, Hofman, Albert, Standl, Marie, Kemp, John P, Kim, Cecilia E, Klopp, Norman, Fornage, Myriam, Smith, Albert V, Seshadri, Sudha, Schmidt, Reinhold, Debette, Stéphanie, Vrooman, Henri A, Ropele, Stefan, Sigurdsson, Sigurdur, Lahti, Jari, Coker, Laura H, Longstreth, W. T., Niessen, Wiro J, DeStefano, Anita L, Beiser, Alexa, Zijdenbos, Alex P, Struchalin, Maksim, Jack, Clifford R, Nalls, Mike A, Au, Rhoda, Lye, Stephen J, Gudnason, Haukur, van der Lugt, Aad, Harris, Tamara B, Meeks, William M, Vernooij, Meike W, van Buchem, Mark A, Catellier, Diane, Gudnason, Vilmundur, Windham, B Gwen, McMahon, George, Wolf, Philip A, van Duijn, Cornelia M, Mosley, Thomas H, Schmidt, Helena, Launer, Lenore J, Breteler, Monique M B, DeCarli, Charles, Mentch, Frank D, Müller, Martina, Rivadeneira, Fernando, Steegers, Eric A P, Epidemiology, Cohorts for Heart and Aging Research in Genetic, Debette, Stephanie, Epidemiology, Early Genetics & Lifecourse, Blakemore, Alexandra If, Chiavacci, Rosetta M, Fernandez-Benet, Julio, Hartikainen, Anna-Liisa, van der Heijden, Albert J, Lathrop, Mark, McArdle, Wendy L, Mølgaard, Anne, Newnham, John P, Palotie, Aarno, Pouta, Annneli, Ring, Susan M, Kreiner-Møller, Eskil, Wichmann, H-Erich, Vissing, Nadja Hawwa, Koppelman, Gerard H, Bisgaard, Hans, Smith, George Davey, Genetics, Early Growth, Adair, Linda S, Atalay, Mustafa, Faculteit Medische Wetenschappen/UMCG, Groningen Research Institute for Asthma and COPD (GRIAC), Biological Psychology, Neuroscience Campus Amsterdam - Brain Imaging, EMGO+ - Mental Health, Epidemiology, Erasmus MC other, Internal Medicine, Obstetrics & Gynecology, Radiology & Nuclear Medicine, Pediatrics, Early Genetics & Lifecourse Epidemiology (EAGLE) Consortium, Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium, Early Growth Genetics (EGG) Consortium, Taal, H Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Jaddo, Vincent WV, and Hypponen, Elina

Subjects
Embaràs -- Complicacions, Netherlands Twin Register (NTR), Male, Medizin, pathology [Head], Physiology, PROTEIN, Genome-wide association study, INTELLIGENCE, Bioinformatics, 0302 clinical medicine, PARKINSONS-DISEASE, Polymorphism (computer science), Pregnancy, infant head circumference, chromosome 12q24, Cap -- Malalties, health care economics and organizations, Cap -- Creixement, 0303 health sciences, 3. Good health, genetics [European Continental Ancestry Group], genetics [Chromosomes, Human, Pair 12], genetics [Polymorphism, Single Nucleotide], Medical genetics, Female, chromosome 12q15, BRAIN-DEVELOPMENT, Genetic Markers, medicine.medical_specialty, DISORDERS, Single-nucleotide polymorphism, Biology, etiology [Pregnancy Complications], Polymorphism, Single Nucleotide, White People, Article, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Meta-Analysis as Topic, ddc:570, Genetics, medicine, Humans, GENOME-WIDE ASSOCIATION, Institut für Biochemie und Biologie, 030304 developmental biology, Genetic association, Cromosomes humans, pathology [Pregnancy Complications], Chromosomes, Human, Pair 12, IDENTIFICATION, growth & development [Head], MUTATIONS, Polimorfisme genètic, Chromosome, Infant, ta3121, medicine.disease, brain growth, GENE, Pregnancy Complications, Genetic marker, Genetic Loci, FETAL-GROWTH, Head, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 × 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 × 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height, their effects on infant head circumference were largely independent of height (P = 3.8 × 10(-7) for rs7980687 and P = 1.3 × 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 × 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume, Parkinson's disease and other neurodegenerative diseases, indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life. Major funding for the research in this paper is as follows: Academy of Finland (project grants 104781, 120315, 129269, 1114194 and Center of Excellence in Complex Disease Genetics); Canadian Institutes of Health Research (grant MOP 82893); The European Community’s Seventh Framework Programme (FP7/2007-2013), ENGAGE project, grant agreement HEALTH-F4-2007-201413; Instituto de Salud Carlos III (FIS PI081151, and PS09/00432); Medical Research Council UK (G0500539, G0600331, PrevMetSyn/Salve/MRC, G0600705); National Health and Medical Research Council of Australia (ID 403981 and ID 003209); Netherlands Organisation for Scientific Research (NOW)/Netherlands Organisation for Health Reseacrh and Development (ZonMw) (grants SPI 56-464-14192, 904-61-090, 904-61-193, 480-04-004, 400-05-717); NHLBI (grant 5R01HL087679-02 through the STAMPEED program (1RL1MH083268-01)); NIH (grant 1R01HD056465-01A1); University of Leipzig; Wellcome Trust (project grant GR069224); Western Australian DNA Bank; Western Australian Genetic Epidemiology Resource; ZonMW (grant 21000074). Personal funding is as follows: H.R.T by the Dutch Kidney Foundation (C08.2251) , S.D. by the Medical Research Council UK (G0500539, PrevMetSyn, and PS0476), R.M.F by a Sir Henry Wellcome Postdoctoral Fellowship (Wellcome Trust grant: 085541/Z/08/Z), D.M.E. by a Medical Research Council New Investigator Award (MRC G0800582 to D.M.E.), J.P.K. by a Wellcome Trust 4-year PhD studentship (WT083431MA), I.P. and J.F.B. in part supported by the European Community’s ENGAGE grant HEALTH-F4-2007-201413. A.T.H. is employed as a core member of the Peninsula NIHR Clinical Research Facility, V.W.V.J by the Netherlands Organization for Health Research (ZonMw 90700303, 916.10159)

Published
2012
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