A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.
A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.
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DOI：
10.1038/hgv.2017.19
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发表时间：
2017
影响因子：
1.5
通讯作者：
Kurosawa K
中科院分区：
文献类型：
--
作者：
Tsurusaki Y;Ohashi I;Enomoto Y;Naruto T;Mitsui J;Aida N;Kurosawa K
X 连锁智力障碍 (ID) 型纳西门托 (MIM #300860)，也称为泛素结合酶 E2 A (UBE2A) 缺乏综合征，是一种先天性畸形综合征，其特征为中度至重度智力障碍、言语障碍、面部特征畸形、生殖器异常和皮肤异常。在此，我们报告一位患有严重智力障碍和先天性白内障的日本患者。我们通过全外显子组测序在 UBE2A 中发现了一个新的半合子突变（c.76G>A，p.Gly26Arg）。
X-linked intellectual disability (ID) type Nascimento (MIM #300860), also known as ubiquitin-conjugating enzyme E2 A (UBE2A) deficiency syndrome, is a congenital malformation syndrome characterized by moderate to severe ID, speech impairment, dysmorphic facial features, genital anomalies and skin abnormalities. Here, we report a Japanese patient with severe ID and congenital cataract. We identified a novel hemizygous mutation (c.76G>A, p.Gly26Arg) in UBE2A by whole-exome sequencing.