Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
复制标题
DOI：
10.1186/1755-8166-5-17
复制
发表时间：
2012-04-05
影响因子：
1.3
通讯作者：
Stankiewicz P
中科院分区：
文献类型：
--
作者：
Celestino-Soper PB;Skinner C;Schroer R;Eng P;Shenai J;Nowaczyk MM;Terespolsky D;Cushing D;Patel GS;Immken L;Willis A;Wiszniewska J;Matalon R;Rosenfeld JA;Stevenson RE;Kang SH;Cheung SW;Beaudet AL;Stankiewicz P
6 号染色体短臂的间质性缺失非常罕见，并且与发育迟缓、肌张力低下、先天性异常和畸形特征有关。我们在南卡罗来纳州自闭症项目 (SCAP) 的 97 名自闭症谱系障碍 (ASD) 受试者队列中使用阵列比较基因组杂交，并在一名患有智力障碍和 ASD 的 15 岁患者的染色体 6p22.3-p23 上发现了约 5.4 Mb 的缺失。随后的数据库查询显示，另外 5 名个体存在重叠的亚显微缺失，并表现出发育和言语迟缓、癫痫、行为异常、心脏缺陷和畸形特征。在 SCAP 患者中发现的缺失包含 ATXN1、DTNBP1、JARID2 和 NHLRC1，我们认为这些缺失可能与 ASD 和发育迟缓有关。
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.
登录
查看更多内容
影响因子：
30.8
作者：
Aldinger, Kimberly A.;Lehmann, Ordan J.;Hudgins, Louanne;Chizhikov, Victor V.;Bassuk, Alexander G.;Ades, Lesley C.;Krantz, Ian D.;Dobyns, William B.;Millen, Kathleen J.
通讯作者：
Millen, Kathleen J.
影响因子：
5.3
作者：
El-Hattab AW;Smolarek TA;Walker ME;Schorry EK;Immken LL;Patel G;Abbott MA;Lanpher BC;Ou Z;Kang SH;Patel A;Scaglia F;Lupski JR;Cheung SW;Stankiewicz P
通讯作者：
Stankiewicz P
影响因子：
3.5
作者：
Gehrking KM;Andresen JM;Duvick L;Lough J;Zoghbi HY;Orr HT
通讯作者：
Orr HT
影响因子：
8.8
作者：
Cheung, SW;Shaw, CA;Beaudet, AL
通讯作者：
Beaudet, AL
影响因子：
64.8
作者：
通讯作者：
--