Celestino-Soper Patrícia Bs, Skinner Cindy, Schroer Richard, Eng Patricia, Shenai Jayant, Nowaczyk Malgorzata Mj, Terespolsky Deborah, Cushing Donna, Patel Gayle S, Immken Ladonna, Willis Alecia, Wiszniewska Joanna, Matalon Reuben, Rosenfeld Jill A, Stevenson Roger E, Kang Sung-Hae L, Cheung Sau Wai, Beaudet Arthur L, Stankiewicz Pawel
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Mol Cytogenet. 2012 Apr 5;5:17. doi: 10.1186/1755-8166-5-17.
Interstitial deletions of the short arm of chromosome 6 are rare and have been associated with developmental delay, hypotonia, congenital anomalies, and dysmorphic features. We used array comparative genomic hybridization in a South Carolina Autism Project (SCAP) cohort of 97 subjects with autism spectrum disorders (ASDs) and identified an ~ 5.4 Mb deletion on chromosome 6p22.3-p23 in a 15-year-old patient with intellectual disability and ASDs. Subsequent database queries revealed five additional individuals with overlapping submicroscopic deletions and presenting with developmental and speech delay, seizures, behavioral abnormalities, heart defects, and dysmorphic features. The deletion found in the SCAP patient harbors ATXN1, DTNBP1, JARID2, and NHLRC1 that we propose may be responsible for ASDs and developmental delay.
6号染色体短臂的间质性缺失较为罕见，与发育迟缓、肌张力减退、先天性异常及畸形特征有关。我们在南卡罗来纳自闭症项目（SCAP）的97名自闭症谱系障碍（ASD）患者队列中使用了阵列比较基因组杂交技术，在一名患有智力残疾和ASD的15岁患者中发现6号染色体p22.3 - p23区域存在一个约5.4 Mb的缺失。随后的数据库查询又发现了另外5名个体存在重叠的亚微观缺失，并伴有发育和语言迟缓、癫痫发作、行为异常、心脏缺陷及畸形特征。在SCAP患者中发现的缺失区域包含ATXN1、DTNBP1、JARID2和NHLRC1，我们认为这些基因可能与ASD及发育迟缓有关。
