Journal of autism and developmental disorders · 2012
Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.
СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Malenfant Patrick, Liu Xudong, Hudson Melissa L, Qiao Ying, Hrynchak Monica, Riendeau Noémie, 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
Аннотация
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.
Предметные рубрики MeSH
5' Untranslated RegionsAllelesAnxiety DisordersChildChild Development Disorders, PervasiveChromosome DeletionChromosome DuplicationChromosomes, Human, Pair 7ExonsFemaleGenetic Association StudiesGenetic Carrier ScreeningGenetic MarkersGenetic TestingHumansInterpersonal RelationsLanguage Development DisordersOligonucleotide Array Sequence AnalysisPolymorphism, Single NucleotideStereotyped BehaviorTranscription Factors, TFIIWilliams Syndrome