576 kb deletion in 1p36.33-p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy
576 kb deletion in 1p36.33-p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy
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DOI：
10.1016/j.gene.2013.07.024
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发表时间：
2013-10-10
期刊：
影响因子：
3.5
通讯作者：
Tan, Zhi-Ping
中科院分区：
文献类型：
--
作者：
Zhu, Xin;Zhang, Yi;Tan, Zhi-Ping
1p36 缺失（monosomy 1p36）是人类中最常见的末端缺失之一，其特征是特殊的面部特征、智力低下、心脏缺陷、发育迟缓和癫痫。此前，我们通过 SNP 阵列报告了肢体、先天性心脏病 (CHD) 和其他畸形患者的分子发现。在同一队列的一名综合征患者中，我们检测到含有 SKI（斯隆-凯特林研究所原癌蛋白）的 1p36.33-p36.32 的小缺失。最近，SKI 显性突变被确定与 Shprintzen-Goldberg 综合征相关。回顾性检查发现该患者患有肢体畸形、冠心病、癫痫和轻度发育迟缓。结合之前的报告，我们的研究表明，包含 SKI 的 1p36.33-1p36.32 缺失可能代表了一种之前未描述的微缺失疾病。 (C) 2013 Elsevier B.V. 保留所有权利。
1p36 deletion (monosomy 1p36) is one of the most common terminal deletions observed in humans, characterized by special facial features, mental retardation, heart defects, development delay and epilepsy. Previously, we reported molecular findings in patients with limb, congenital heart disease (CHD) and other malformations with SNP-array. In a syndromic patient of the same cohort, we detected a small deletion of 1p36.33-p36.32 containing SKI (Sloan-Kettering Institute protooncoprotein). Recently, dominant mutations in SKI were identified to be correlated with Shprintzen-Goldberg syndrome. Retrospective examination revealed this patient with limb malformations, CHD, epilepsy and mild development delay. Together with previous reports, our study suggests that the 1p36.33-1p36.32 deletion encompassing SKI may represents a previous undescribed microdeletion disorder. (C) 2013 Elsevier B.V. All rights reserved.