A CGG-repeat expansion mutation in ZNF713 causes FRA7A: Association with autistic spectrum disorder in two families

Human Mutation

Volumn 35, Issue 11, 2014, Pages 1295-1300

  Metsu, Sofie ^a   Rainger, Jacqueline K ^b   Debacker, Kim ^a   Bernhard, Birgitta ^c   Rooms, Liesbeth ^a   Grafodatskaya, Daria ^d   Weksberg, Rosanna ^e,f   Fombonne, Eric ^g   Taylor, Martin S ^b   Scherer, Stephen W ^d,h   Kooy, R Frank ^a   Fitzpatrick, David R ^b  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c WESTERN GENERAL HOSPITAL   (United Kingdom)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f UNIVERSITY OF TORONTO   (Canada)

^g MONTREAL CHILDREN S HOSPITAL   (Canada)

^h UNIVERSITY OF TORONTO   (Canada)

Author keywords

Autism; CGG repeat; Folate sensitive; Fragile site; ZNF713

Indexed keywords

ALLELE; ARTICLE; AUTISM; CGG REPEAT EXPANSION; CHROMOSOME 7P; CHROMOSOME FRAGILE SITE; CONTROLLED STUDY; CPG ISLAND; DNA STRUCTURE; FAMILY; FEMALE; FOLATE SENSITIVE FRAGILE SITE FRA7A; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HUMAN; INTRON; LYMPHOBLASTOID CELL LINE; MALE; NUCLEOTIDE SEQUENCE; ZNF713 GENE; ADULT; AUTISTIC DISORDER; CHILD; CHROMOSOME 7; DNA METHYLATION; DNA SEQUENCE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; PEDIGREE; TRINUCLEOTIDE REPEAT;

DNA BINDING PROTEIN; TRANSCRIPTION FACTOR; ZNF713 PROTEIN, HUMAN;

ADULT; ALLELES; AUTISTIC DISORDER; CHILD; CHROMOSOME FRAGILE SITES; CHROMOSOMES, HUMAN, PAIR 7; CPG ISLANDS; DNA METHYLATION; DNA-BINDING PROTEINS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PEDIGREE; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84917726034     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22683     Document Type: Article

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