Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype
复制标题
嗅觉受体相关复制子介导与综合征表型相关的 11q13.2q13.4 处的微缺失
DOI：
10.1159/000322054
复制
发表时间：
2010
影响因子：
1.1
通讯作者：
M. Seri
中科院分区：
文献类型：
--
作者：
A. Wischmeijer;P. Magini;R. Giorda;M. Gnoli;R. Ciccone;I. Cecconi;E. Franzoni;L. Mazzanti;G. Romeo;O. Zuffardi;M. Seri
通过阵列 CGH，我们在一名患有言语和发育迟缓的儿童中发现了约 3.4 Mb 的隐性缺失，涉及染色体区域 11q13.2q13.4。与众所周知的 8p 和 4p 处含有嗅觉受体 (OR) 的簇相关的高度同源片段重复位于不平衡的断点处，并且可能与不平衡的发生有关。尽管已知这些结构特征会促进反复发生的染色体重排，并且之前的研究已将 11q13.2q13.4 缺失区域纳入被认为可能更不稳定的区域，但迄今为止，尚未报道该区域的缺失或重复。在删除的基因中，SHANK2可能在患者的表型中发挥作用，因为它编码类似于SHANK3的突触后支架蛋白，SHANK3的单倍体不足是严重言语延迟和自闭症样行为的众所周知的原因，并且最近在患有自闭症谱系障碍或精神发育迟滞的患者中描述了SHANK2的缺失和突变。
By array-CGH, we identified a cryptic deletion of about 3.4 Mb involving the chromosomal region 11q13.2q13.4 in a child with speech and developmental delay. Highly homologous segmental duplications related to the well-known olfactory receptor (OR)-containing clusters at 8p and 4p are located at the breakpoints of the imbalance and may be involved in its occurrence. Although these structural features are known to promote recurrent chromosomal rearrangements and previous studies had included the 11q13.2q13.4 deletion region among those considered potentially more unstable, neither deletions nor duplications of this region had been reported until now. Among the deleted genes, SHANK2 might play a role in the phenotype of the patient since it encodes a postsynaptic scaffolding protein similar to SHANK3, whose haploinsufficiency is a well-known cause of severe speech delay and autistic-like behavior, and recently deletions and mutations of SHANK2 have been described in patients with an autistic spectrum disorder or mental retardation.
登录
查看更多内容
影响因子：
7
作者：
Schwartz, S;Zhang, Z;Miller, W
通讯作者：
Miller, W
影响因子：
30.8
作者：
Berkel, Simone;Marshall, Christian R.;Rappold, Gudrun A.
通讯作者：
Rappold, Gudrun A.
DOI：
10.1073/pnas.0401025101
发表时间：
2004-05-04
影响因子：
11.1
作者：
Bush, JO;Lan, Y;Jiang, RL
通讯作者：
Jiang, RL
DOI：
10.1146/annurev.genom.9.081307.164217
发表时间：
2009
影响因子：
8.7
作者：
Zhang F;Gu W;Hurles ME;Lupski JR
通讯作者：
Lupski JR