UBE2A Deficiency Syndrome: Mild to Severe Intellectual Disability Accompanied by Seizures, Absent Speech, Urogenital, and Skin Anomalies in Male Patients
UBE2A Deficiency Syndrome: Mild to Severe Intellectual Disability Accompanied by Seizures, Absent Speech, Urogenital, and Skin Anomalies in Male Patients
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DOI：
10.1002/ajmg.a.33743
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发表时间：
2010-12-01
影响因子：
2
通讯作者：
de Brouwer, Arjan P. M.
中科院分区：
文献类型：
--
作者：
de Leeuw, Nicole;Bulk, Saskia;de Brouwer, Arjan P. M.
我们描述了3例具有类似缺失的患者，包括SLC25A43、SLC25A5、CXorf56、UBE2A、NKRF和两个非编码RNA基因U1和LOC100303728。所有3例患者均存在中度至重度智力障碍（ID）、精神运动迟缓、严重语言障碍/缺失、癫痫发作和泌尿生殖系统异常。面部畸形包括眼远视、斜视和鼻梁凹陷。这些临床特征与来自Xq24相似缺失家族（也包括UBE2A）的两名患者以及UBE2A点突变巴西和波兰家族的几名患者的临床特征重叠。值得注意的是，所有5例Xq24缺失的患者都有室间隔缺陷，而在点突变患者中不存在这种缺陷，这可能归因于SLC25A5的缺失。综上所述，UBE2A基因突变或缺失的男性患者的UBE2A缺乏综合征的特征是ID、言语缺失、癫痫发作、泌尿生殖系统异常（通常包括小阴茎）和皮肤异常，包括广泛性多毛症、低后发际线、混合性水肿外观、间距较大的乳头和发圈。面部畸形包括脸宽、鼻梁凹陷、嘴角下垂的大嘴、薄薄的朱砂和短而宽的脖子。(C) 2010 Wiley-Liss, Inc。
We describe three patients with a comparable deletion encompassing SLC25A43, SLC25A5, CXorf56, UBE2A, NKRF, and two non-coding RNA genes, U1 and LOC100303728. Moderate to severe intellectual disability (ID), psychomotor retardation, severely impaired/absent speech, seizures, and urogenital anomalies were present in all three patients. Facial dysmorphisms include ocular hypertelorism, synophrys, and a depressed nasal bridge. These clinical features overlap with those described in two patients from a family with a similar deletion at Xq24 that also includes UBE2A, and in several patients of Brazilian and Polish families with point mutations in UBE2A. Notably, all five patients with an Xq24 deletion have ventricular septal defects that are not present inpatients with a point mutation, which might be attributed to the deletion of SLC25A5. Taken together, the UBE2A deficiency syndrome in male patients with a mutation in or a deletion of UBE2A is characterized by ID, absent speech, seizures, urogenital anomalies, frequently including a small penis, and skin abnormalities, which include generalized hirsutism, low posterior hairline, myxedematous appearance, widely spaced nipples, and hair whorls. Facial dysmorphisms include a wide face, a depressed nasal bridge, a large mouth with downturned corners, thin vermilion, and a short, broad neck. (C) 2010 Wiley-Liss, Inc.