Association of "GTF2i" in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders

Autor/inn/en	Malenfant, Patrick; Liu, Xudong; Hudson, Melissa L.; Qiao, Ying; Hrynchak, Monica; Riendeau, Noemie; Hildebrand, M. Jeannette; Cohen, Ira L.; Chudley, Albert E.; Forster-Gibson, Cynthia; Mickelson, Elizabeth C. R.; Rajcan-Separovic, Evica; Lewis, M. E. Suzanne; Holden, Jeanette J. A.
Titel	Association of "GTF2i" in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders
Quelle	In: Journal of Autism and Developmental Disorders, 42 (2012) 7, S.1459-1469 (11 Seiten) PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0162-3257
DOI	10.1007/s10803-011-1389-4
Schlagwörter	Autism; Interpersonal Relationship; Interaction; Etiology; Expressive Language; Pervasive Developmental Disorders; Genetic Disorders; Genetics; Antisocial Behavior; Behavior Problems; Risk; Symptoms (Individual Disorders); Anxiety; Language Impairments + Suchen Sie Ihr Suchwort? Autismus; Interpersonal relation; Interpersonal relations; Interpersonelle Beziehung; Zwischenmenschliche Beziehung; Interaktion; Ätiologie; Humangenetik; Risiko; Psychiatrische Symptomatik; Angst; Speech disorder; Speech disorders; Speech disabilities; Speech disability; Speech handicap; Speech handicaps; Speech impairment; Speech impairments; Language handicaps; Sprachbehinderung
Abstract	Duplications of 7q11.23, deleted in Williams-Beuren Syndrome, have been implicated in autism spectrum disorders (ASDs). A 1.5 Mb duplication was identified in one girl with severe expressive language deficits and anxiety among 1,142 ASD individuals screened for this duplication. Family-based association studies of Tag-SNPs in three genes ("STX1A," "CYLN2" and "GTF2i") in two multiplex autism family cohorts revealed strong association of two "GTF2i" SNPs and their haplotype in Cohort 1 and the combined families. The risk alleles and haplotype were associated with severe problems in social interaction and excessive repetitive behaviors. Our findings suggest the "GTF2i" gene is important in the etiology of autism in individuals with this duplication and in non-duplication cases with severe social interaction problems and repetitive behaviors. (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2017/4/10