De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

American Journal of Human Genetics

Volumn 99, Issue 3, 2016, Pages 711-719

  Kim, Jung Hyun ^a   Shinde, Deepali N ^b   Reijnders, Margot R F ^c   Hauser, Natalie S ^d   Belmonte, Rebecca L ^e   Wilson, Gregory R ^e   Bosch, Daniëlle G M ^c   Bubulya, Paula A ^f   Shashi, Vandana ^g   Petrovski, Slavé ^h,i   Stone, Joshua K ^a   Park, Eun Young ^a   Veltman, Joris A ^c,j   Sinnema, Margje ^j   Stumpel, Connie T R M ^j   Draaisma, Jos M ^k   Nicolai, Joost ^l   Yntema, Helger G ^c   Lindstrom, Kristin ^m   de Vries, Bert B A ^c   Jewett, Tamison ⁿ   Santoro, Stephanie L ^o,p   Vogt, Julie ^q,r   Bachman, Kristine K ^s   Seeley, Andrea H ^s   Krokosky, Alyson ^t   Turner, Clesson ^t   Rohena, Luis ^u,v   Hempel, Maja ^w   Kortüm, Fanny ^w   Lessel, Davor ^w   Neu, Axel ^w   Strom, Tim M ^x,y   Wieczorek, Dagmar ^z,aa   Bramswig, Nuria ^aa   Laccone, Franco A ^ab   Behunova, Jana ^ab   Rehder, Helga ^ab   Gordon, Christopher T ^ac,ad   Rio, Marlène ^ae   Romana, Serge ^ae,af   Tang, Sha ^b   El Khechen, Dima ^b   Cho, Megan T ^ag   McWalter, Kirsty ^ag   Douglas, Ganka ^ag   Baskin, Berivan ^ag   Begtrup, Amber ^ag   Funari, Tara ^ag   Schoch, Kelly ^g   Stegmann, Alexander P A ^j   Stevens, Servi J C ^j   Zhang, Dong Er ^ah,ai,aj   Traver, David ^aj   Yao, Xu ^ah   MacArthur, Daniel G ^ak,al,am   Brunner, Han G ^c,j   Mancini, Grazia M ^an   Myers, Richard M ^ao   Owen, Laurie B ^a   Lim, Ssang Taek ^a   Stachura, David L ^e   Vissers, Lisenka E L M ^c   Ahn, Eun Young Erin ^a   more..

^a UNIVERSITY OF SOUTH ALABAMA   (United States)

^b AMBRY GENETICS   (United States)

^c RADBOUD UNIVERSITY   (Netherlands)

^d Valley Children's Hospital   (United States)

^e CALIFORNIA STATE UNIVERSITY   (United States)

^f WRIGHT STATE UNIVERSITY   (United States)

^g DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF MELBOURNE   (Australia)

ⁱ Och Spine at New York Presbyterian Hospitals   (United States)

^j MAASTRICHT UNIVERSITY   (Netherlands)

^k RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^l MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^m PHOENIX CHILDREN'S HOSPITAL   (United States)

ⁿ WAKE FOREST SCHOOL OF MEDICINE   (United States)

^o NATIONWIDE CHILDREN S HOSPITAL   (United States)

^p THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^q BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^r WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^s GEISINGER MEDICAL CENTER   (United States)

^t WALTER REED ARMY MEDICAL CENTER   (United States)

^u SAN ANTONIO MILITARY MEDICAL CENTER   (United States)

^v UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^w UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^x INSTITUTE OF EPIDEMIOLOGY   (Germany)

^y TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^z UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^aa UNIVERSITY HOSPITAL ESSEN   (Germany)

^ab MEDICAL UNIVERSITY OF VIENNA   (Austria)

^ac IMAGINE INSTITUTE   (France)

^ad UNIVERSITÉ PARIS DESCARTES   (France)

^ae HÔPITAL NECKER ENFANTS MALADES   (France)

^af PARIS DESCARTES SORBONNE PARIS CITÉ UNIVERSITY   (France)

^ag GENEDX   (United States)

^ah UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^ai UNIVERSITY OF CALIFORNIA   (United States)

^aj UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^ak BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^al MASSACHUSETTS GENERAL HOSPITAL   (United States)

^am HARVARD MEDICAL SCHOOL   (United States)

^an ERASMUS MEDICAL CENTER   (Netherlands)

^ao HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; MESSENGER RNA; RNA; RNA POLYMERASE II; SON DNA BINDING PROTEIN; UNCLASSIFIED DRUG; MINOR HISTOCOMPATIBILITY ANTIGEN; SON PROTEIN, HUMAN;

ACY1 GENE; ADA GENE; ADOLESCENT; ADULT; ARACHNOID CYST; ARTICLE; BRAIN CORTEX; BRAIN DEVELOPMENT; BRAIN METABOLISM; BRAIN VENTRICLE DILATATION; CELL MIGRATION; CHILD; CLINICAL ARTICLE; CONGENITAL MALFORMATION; CONTRACTURE; DEVELOPMENTAL DELAY; DOWN REGULATION; DYSKERATOSIS CONGENITA; EMBRYO DEVELOPMENT; EPILEPSY; EXON SKIPPING; FACE DYSMORPHIA; FLNA GENE; FRAMESHIFT MUTATION; HAPLOINSUFFICIENCY; HUMAN; HUMAN CELL; IDH2 GENE; INTELLECTUAL IMPAIRMENT; KYPHOSIS; LOSS OF FUNCTION MUTATION; LOW SET EAR; MICROGYRIA; MIDFACE HYPOPLASIA; MUSCLE HYPOTONIA; MUSCULOSKELETAL SYSTEM MALFORMATION; NERVE CELL; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE; PCK2 GENE; PERIPHERAL BLOOD MONONUCLEAR CELL; PFKL GENE; PNKP GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSMD3 GENE; RNA SPLICING; RNA-BINDING DOMAIN; SCHOOL CHILD; SCOLIOSIS; SEIZURE; STOP CODON; TUBG1 GENE; VISUAL DISORDER; WDR62 GENE; YOUNG ADULT; ZEBRA FISH; ABNORMALITIES; ANIMAL; BRAIN; DEVELOPMENTAL DISORDER; EMBRYOLOGY; ESSENTIAL GENE; EYE MALFORMATION; FEMALE; GENETICS; HEAD; HETEROZYGOTE; MALE; METABOLIC DISORDER; METABOLISM; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; SPINE; SYNDROME;

ANIMALS; BRAIN; DEVELOPMENTAL DISABILITIES; DNA-BINDING PROTEINS; EYE ABNORMALITIES; FEMALE; GENES, ESSENTIAL; HAPLOINSUFFICIENCY; HEAD; HETEROZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; METABOLIC DISEASES; MINOR HISTOCOMPATIBILITY ANTIGENS; MUTATION; PEDIGREE; RNA SPLICING; RNA, MESSENGER; SPINE; SYNDROME; ZEBRAFISH;

EID: 85009792752     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.06.029     Document Type: Article

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