期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 167, 期 6, 页码 1381-1385出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.37050
关键词
autism susceptibility candidate 2; neurodevelopmental disorders; autism spectrum disorder; developmental delay
资金
- GSK-CIHR Endowed Chair in Genome Sciences
Exonic deletions disrupting the autism susceptibility candidate 2 (AUTS2) gene have been demonstrated as causal variants leading to neurodevelopmental disorders (NDDs) such as autism spectrum disorder (ASD) and developmental delay (DD). Here, we report on 830kb de novo deletion at chromosome 7q11.22 in a 4-year-old male patient with ASD and DD. This deletion disrupts the promoter region and exon 1 of AUTS2, potentially leading to complete haploinsuffiency of the gene. In addition, we discuss the clinical presentation of the de novo deletion in the light of the previous studies describing deletions of AUTS2 in NDDs. (c) 2015 Wiley Periodicals, Inc.
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