A contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: possible contribution of HDAC9.
A contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: possible contribution of HDAC9.
复制标题
在一名与神经发育迟缓相关的 Saethre-Chotzen 综合征患者中发现了邻近 TWIST1 的连续基因缺失：HDAC9 的可能贡献。
DOI：
10.1111/cga.12216
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发表时间：
2017
期刊：
影响因子：
--
通讯作者：
Kurosawa K.
中科院分区：
文献类型：
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作者：
Shimbo H;Oyoshi T;Kurosawa K.
Saethre - Chotzen综合征（SCS）是一种常染色体显性的颅缝闭疾病，其特征为冠状缝闭、面部不对称、上睑下垂和肢体异常。twist - 1是一种基本的螺旋-环-螺旋转录因子，其单倍性不足是导致SCS的原因。在这里，我们报告了一个15个月大的男性患者，除了发育迟缓之外，还有典型的SCS临床特征，这是SCS罕见的并发症。他在7p21中发现了0.9 Mb的微缺失，其中包括twist1、NPMIP13、FERD3L、TWISTNB和hdac9。与先前报道的患者相比，hdac9被认为有助于7p21微缺失的SCS患者的发育延迟。
Saethre‐Chotzen syndrome (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, ptosis, and limb abnormalities.Haploinsufficiency ofTWIST1, a basic helix–loop–helix transcription factor is responsible for SCS. Here, we report a 15‐month‐old male patient with typical clinical features of SCS in addition to developmental delay, which is a rare complication in SCS. He showed ade novo0.9‐Mb microdeletion in 7p21, in whichTWIST1,NPMIP13,FERD3L,TWISTNB, andHDAC9were included. In comparison with previously reported patients,HDAC9was suggested to contribute to developmental delay in SCS patients with 7p21 mirodeletions.