Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly
Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly
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DOI：
10.1007/s10048-012-0326-9
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发表时间：
2012-08-01
期刊：
影响因子：
2.2
通讯作者：
Tolun, Ashhan
中科院分区：
文献类型：
--
作者：
Guven, Ayse;Gunduz, Aysegul;Tolun, Ashhan
无脑畸形的特征是皮质分层不足。最近报道了三个患有极端小头畸形伴无脑畸形或小无脑畸形的家族中的纯合子NDE1突变。另一种涉及大脑的严重发育缺陷是微积水性无脑畸形，表现为小头畸形、运动和智力迟钝以及大脑畸形，包括脑室明显扩张，大脑半球完全缺失或严重发育迟缓。在我们先前报道的三个相关的小积水无脑畸形患者中，我们发现了一个纯合性缺失，包括含有起始密码子的NDE 1外显子2。预测突变导致无效等位基因。在此，我们比较了我们的研究患者的临床表型报告为小无脑畸形。我们的患者的临床研究结果有第四个NDE1突变报告到目前为止，扩大了频谱的NDE1突变导致的脑畸形。
Lissencephaly is characterized by deficient cortical lamination. Recently homozygous NDE1 mutations were reported in three kindred afflicted with extreme microcephaly with lissencephaly or microlissencephaly. Another severe developmental defect that involves the brain is microhydranencephaly which manifests with microcephaly, motor and mental retardation and brain malformations that include gross dilation of the ventricles with complete absence of the cerebral hemispheres or severe delay in their development. In the three related patients with microhydranencephaly that we had reported previously, we identified a homozygous deletion that encompasses NDE1 exon 2 containing the initiation codon. The mutation is predicted to result in a null allele. Herein we compare the clinical phenotypes of our research patients to those reported as microlissencephaly. The clinical findings in our patients having the fourth NDE1 mutation reported so far widen the spectrum of brain malformations resulting from mutations in NDE1.