Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

European Journal of Human Genetics

Volumn 22, Issue 1, 2014, Pages 57-63

  Mullegama, Sureni V ^a   Rosenfeld, Jill A ^b   Orellana, Carmen ^c   Van Bon, Bregje W M ^d   Halbach, Sara ^e   Repnikova, Elena A ^f   Brick, Lauren ^g   Li, Chumei ^g   Dupuis, Lucie ^h   Rosello, Monica ^c   Aradhya, Swaroop ⁱ   Stavropoulos, D James ^h,j   Manickam, Kandamurugu ^f   Mitchell, Elyse ^k   Hodge, Jennelle C ^k   Talkowski, Michael E ^l,m,n   Gusella, James F ^l,m,n   Keller, Kory ^o   Zonana, Jonathan ^o   Schwartz, Stuart ^p   Pyatt, Robert E ^f   Waggoner, Darrel J ^e   Shaffer, Lisa G ^q   Lin, Angela E ^l   De Vries, Bert B A ^d   Mendoza Londono, Roberto ^h   Elsea, Sarah H ^a,r   more..

^a VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b PERKINELMER INC   (United States)

^c HOSPITAL UNIVERSITARIO LA FE   (Spain)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF CHICAGO   (United States)

^f NATIONWIDE CHILDREN S HOSPITAL   (United States)

^g MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^h HOSPITAL FOR SICK CHILDREN   (Canada)

ⁱ GENEDX   (United States)

^j UNIVERSITY OF TORONTO   (Canada)

^k MAYO CLINIC   (United States)

^l MASSACHUSETTS GENERAL HOSPITAL   (United States)

^m MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

ⁿ HARVARD MEDICAL SCHOOL   (United States)

^o OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^p LABORATORY CORPORATION OF AMERICA   (United States)

^q Paw Print Genetics Genetic Veterinary Sciences Inc   (United States)

^r BAYLOR COLLEGE OF MEDICINE   (United States)

more..

Author keywords

2q23.1; autism spectrum disorder; gene dosage; MBD5; microdeletion; microduplication

Indexed keywords

METHYL CPG BINDING PROTEIN; METHYL CPG BINDING PROTEIN 5; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; MBD5 PROTEIN, HUMAN;

ADOLESCENT; ARCHED EYEBROW; ARTICLE; AUTISM; BEHAVIOR DISORDER; CHILD; CHROMOSOME 2Q; CHROMOSOME 2Q23.1; CLINICAL ARTICLE; CLINODACTYLY; CONTROLLED STUDY; EPIGENETICS; FACE MALFORMATION; FEMALE; FINGER MALFORMATION; GENE DELETION; GENE DUPLICATION; GENE OVEREXPRESSION; GROSS MOTOR DELAY; HAPLOINSUFFICIENCY; HUMAN; HYPERTELORISM; HYPOTELORISM; INFANT; INFANTILE HYPOTONIA; INTELLECTUAL IMPAIRMENT; LANGUAGE DISABILITY; LONG EYELASH; MACROCEPHALY; MALE; MICROGNATHIA; MOTOR DYSFUNCTION; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; RETROGNATHIA; SCHOOL CHILD; SEIZURE; STRABISMUS; TELECANTHUS; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHROMOSOME 2; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; GENE DOSAGE; GENETIC EPIGENESIS; GENETICS; PATHOLOGY; TRISOMY;

ADOLESCENT; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; DNA-BINDING PROTEINS; EPIGENESIS, GENETIC; FEMALE; GENE DOSAGE; HUMANS; INFANT; MALE; TRISOMY;

EID: 84890801954     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.67     Document Type: Article

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