De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability

American Journal of Medical Genetics, Part A

Volumn 167, Issue 10, 2015, Pages 2231-2237

  Parker, Michael J ^a   Fryer, Alan E ^b   Shears, Deborah J ^c   Lachlan, Katherine L ^d,e   Mckee, Shane A ^f   Magee, Alex C ^f   Mohammed, Shehla ^g   Vasudevan, Pradeep C ^h   Park, Soo Mi ⁱ   Benoit, Valérie ^j   Lederer, Damien ^j   Maystadt, Isabelle ^j   study, Ddd ^k   Fitzpatrick, David R ^l  

^a SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^b ALDER HEY CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^c CHURCHILL HOSPITAL   (United Kingdom)

^d UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^e UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^f BELFAST CITY HOSPITAL   (United Kingdom)

^g GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^h LEICESTER ROYAL INFIRMARY   (United Kingdom)

ⁱ CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^j Center for Human Genetics   (Belgium)

^k WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^l UNIVERSITY OF EDINBURGH   (United Kingdom)

more..

Author keywords

6p21.3 microdeletion; Behavioral phenotype; DDD study; Epilepsy; Hip dysplasia; Hypertrichosis; Intellectual disability; Strabismus; Syndrome; SYNGAP1

Indexed keywords

AGGRESSION; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DISEASE ACTIVITY; DISEASE ASSOCIATION; FACIES; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GROWTH DISORDER; HIP DYSPLASIA; HUMAN; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; MONOZYGOTIC TWINS; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; MYOCLONUS SEIZURE; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; STRABISMUS; SYNGAP1 GENE; UNSTEADY GAIT; ADOLESCENT; CONSTIPATION; DNA MUTATIONAL ANALYSIS; EPILEPSIES, MYOCLONIC; GAIT DISORDERS, NEUROLOGIC; GENE EXPRESSION; GENETICS; HAPLOINSUFFICIENCY; HETEROZYGOTE; HIP DISLOCATION; INTELLECTUAL DISABILITY; MUTATION; PATHOLOGY; PRESCHOOL CHILD;

GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; SYNGAP1 PROTEIN, HUMAN;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CONSTIPATION; DNA MUTATIONAL ANALYSIS; EPILEPSIES, MYOCLONIC; FEMALE; GAIT DISORDERS, NEUROLOGIC; GENE EXPRESSION; HAPLOINSUFFICIENCY; HETEROZYGOTE; HIP DISLOCATION; HUMANS; INTELLECTUAL DISABILITY; MALE; MUSCLE HYPOTONIA; MUTATION; PHENOTYPE; RAS GTPASE-ACTIVATING PROTEINS; STRABISMUS; TWINS, MONOZYGOTIC;

EID: 84941261442     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37189     Document Type: Article

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