Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.
复制标题
DOI：
10.1371/journal.pone.0006568
复制
发表时间：
2009-08-10
期刊：
影响因子：
3.7
通讯作者：
Shaffer LG
中科院分区：
文献类型：
--
作者：
Rosenfeld JA;Ballif BC;Lucas A;Spence EJ;Powell C;Aylsworth AS;Torchia BA;Shaffer LG
2q32q33重复缺失是最近报道的一种新的微缺失综合征。该综合征的临床特征包括严重的智力低下、生长发育迟缓、畸形、毛发稀疏、进食困难和腭裂或高位。通常缺失的区域至少包含7个基因。其中一个基因SATB2的单倍性不足，是一种调节基因表达的DNA结合蛋白，已被认为与2q32q33微缺失综合征患者的腭裂或高腭裂有关。在这项研究中，我们描述了三个在2q33.1内该区域有较小微缺失的个体。缺失片段大小从173.1 kb到185.2 kb不等，并横跨SATB2的部分区域。对临床记录的回顾显示，这些人的临床特征相似，包括严重的发育迟缓和牙齿异常。其中两个人有行为问题。这里只有一个受试者有腭裂，这表明这一特征的外显率降低。我们的结果提示SATB2的缺失与2q32q33微缺失综合征相关的几个临床特征有关。
Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome. Clinical features of this syndrome include severe mental retardation, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and cleft or high palate. The commonly deleted region contains at least seven genes. Haploinsufficiency of one of these genes, SATB2, a DNA-binding protein that regulates gene expression, has been implicated as causative in the cleft or high palate of individuals with 2q32q33 microdeletion syndrome. In this study we describe three individuals with smaller microdeletions of this region, within 2q33.1. The deletions ranged in size from 173.1 kb to 185.2 kb and spanned part of SATB2. Review of clinical records showed similar clinical features among these individuals, including severe developmental delay and tooth abnormalities. Two of the individuals had behavioral problems. Only one of the subjects presented here had a cleft palate, suggesting reduced penetrance for this feature. Our results suggest that deletion of SATB2 is responsible for several of the clinical features associated with 2q32q33 microdeletion syndrome.
登录
查看更多内容
DOI：
10.1002/ajmg.1320360215
发表时间：
1990-06-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
PALMER, CG;HEEREMA, N;BULL, M
通讯作者：
BULL, M
DOI：
10.1007/bf01897787
发表时间：
1988-12-01
期刊：
JAPANESE JOURNAL OF HUMAN GENETICS
影响因子：
--
作者：
SUMI, S;OBAYASHI, M;OGASAWARA, N
通讯作者：
OGASAWARA, N
影响因子：
3.4
作者：
Britanova, O;Akopov, S;Tarabykin, V
通讯作者：
Tarabykin, V
影响因子：
16.2
作者：
Alcamo, Elizabeth A.;Chirivella, Laura;McConnell, Susan K.
通讯作者：
McConnell, Susan K.
影响因子：
64.5
作者：
Dobreva, Gergana;Chahrour, Maria;Grosschedl, Rudolf
通讯作者：
Grosschedl, Rudolf