Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
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DOI：
10.1136/jmg.2010.082263
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发表时间：
2011-02
影响因子：
4
通讯作者：
Martin CL
中科院分区：
文献类型：
--
作者：
Moreno-De-Luca A;Helmers SL;Mao H;Burns TG;Melton AM;Schmidt KR;Fernhoff PM;Ledbetter DH;Martin CL
脑瘫是一组异质性的神经发育性脑障碍，导致运动和姿势障碍，通常与认知，感觉和行为障碍有关。缺氧缺血性损伤，长期以来被认为是最常见的致病因素，占不到10%的情况下，而越来越多的证据表明，不同的遗传异常可能发挥了重要作用。本报告描述了一个常染色体隐性遗传形式的痉挛性四肢瘫脑性瘫痪，严重的智力残疾，小头畸形，癫痫和白色物质的损失，在一个近亲家庭造成的纯合缺失涉及AP 4 E1，四个亚基的衔接蛋白复合物4（AP-4），确定了染色体微阵列分析。这些发现，沿着先前关于人类和小鼠复合物其他成员突变的报道，表明AP-4的四个亚基中的任何一个的破坏都会导致整个复合物的功能障碍，导致明显的“AP-4缺乏综合征”。
Cerebral palsy is a heterogeneous group of neurodevelopmental brain disorders resulting in motor and posture impairments often associated with cognitive, sensorial, and behavioural disturbances. Hypoxic–ischaemic injury, long considered the most frequent causative factor, accounts for fewer than 10% of cases, whereas a growing body of evidence suggests that diverse genetic abnormalities likely play a major role. This report describes an autosomal recessive form of spastic tetraplegic cerebral palsy with profound intellectual disability, microcephaly, epilepsy and white matter loss in a consanguineous family resulting from a homozygous deletion involving AP4E1, one of the four subunits of the adaptor protein complex-4 (AP-4), identified by chromosomal microarray analysis. These findings, along with previous reports of human and mouse mutations in other members of the complex, indicate that disruption of any one of the four subunits of AP-4 causes dysfunction of the entire complex, leading to a distinct ‘AP-4 deficiency syndrome’.
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影响因子：
2.6
作者：
Lynex CN;Carr IM;Leek JP;Achuthan R;Mitchell S;Maher ER;Woods CG;Bonthon DT;Markham AF
通讯作者：
Markham AF
影响因子：
1.9
作者：
Costeff, H
通讯作者：
Costeff, H
DOI：
10.1111/j.1469-8749.2010.03618.x
发表时间：
2010-05-01
影响因子：
3.8
作者：
Fong, Choong Yi;Mumford, Andrew D.;Jardine, Philip E.
通讯作者：
Jardine, Philip E.
影响因子：
3.5
作者：
Yap, CC;Murate, M;Yano, R
通讯作者：
Yano, R
DOI：
10.1002/ajmg.1320370311
发表时间：
1990-11-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
PETTERSON, B;STANLEY, F;HENDERSON, D
通讯作者：
HENDERSON, D