Clinical utility gene card for: Zellweger syndrome spectrum
Clinical utility gene card for: Zellweger syndrome spectrum
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临床实用基因卡：齐薇格综合征谱系
DOI：
10.1038/ejhg.2014.250
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发表时间：
2015
影响因子：
5.2
通讯作者：
Gärtner J
中科院分区：
文献类型：
--
作者：
Rosewich H;Waterham H;Poll-The BT;Ohlenbusch A;Gärtner J
Zellweger综合征谱(ZSS)包括三种重叠的临床表型，在确定它们的共同生化和遗传原因之前定义。ZS或脑肝肾综合征最早由Bowen和Zellweger在19641描述，标志着疾病谱的严重终点，伴随严重的神经损害(肌肉低张症、发育迟缓和癫痫)，典型的畸形特征(大颧骨、宽缝、高额头、端头过长、宽鼻桥和外耳畸形)和内部器官损害，包括肝肿大并伴有血清肝酶和肾囊肿浓度升高。新生儿肾上腺脑白质营养不良(NALD)表现出类似的临床表型，但不那么严重，婴儿Refsum病(IRD)描述了这种临床连续的轻度结束。据报道，越来越多的患者具有不同于这些经典表型的更轻微或孤立的表型。这些患者是长期存活的患者，2，3 6例罕见的轻度变异型患者，由于5种不同的PEX16突变而导致进行性痉挛性瘫痪和共济失调，4例由于PEX2和PEX10基因突变而作为唯一神经系统症状的常染色体隐性共济失调患者，5，6例成年时被诊断为没有智力残疾的仅感觉障碍患者，7，8以及第一例被确定为PEX11β基因突变的患者。患者表现为先天性白内障、轻度智力残疾、进行性听力丧失、感觉神经受累、胃肠道问题，以及反复发作的偏头痛样发作。9所有导致ZSS的过氧化体生物发生障碍都是以常染色体隐性遗传方式遗传的，可由上述13个人类PEX基因中的任何一个突变引起(见1.3)。10个PEX基因编码过氧物。这些蛋白质是正确组装过氧化物体所必需的，包括蛋白质靶向和蛋白质输入。
The Zellweger syndrome spectrum (ZSS) comprises three overlapping clinical phenotypes defined before the identification of their common biochemical and genetic causes. First described by Bowen and Zellweger in 19641 the ZS, or cerebrohepatorenal syndrome, marks the severe end of the disease spectrum with severe neurologic impairments (muscular hypotonia, failure to thrive and seizures), typical dysmorphic features (large fontanel, wide sutures, high forehead, hypertelorism, broad nasal bridge and external ear deformity) and inner organ impairment including hepatomegaly with elevated serum concentrations of liver enzymes and renal cysts. Neonatal adrenoleukodystrophy (NALD) shows a similar, but less severe clinical phenotype and infantile Refsum disease (IRD) depicts the mild end of this clinical continuum. A growing number of patients with even milder or isolated phenotypes different from these classical phenotypes are reported. These are patients with a prolonged survival, 2, 3 six patients with an unusual mild variant with progressive spastic paraparesis and ataxia due to five different PEX16 mutations, 4 patients with autosomal-recessive ataxia as the only neurological symptom due to mutations in the PEX2 and PEX10 gene, 5, 6 patients with only sensory deficits without intellectual disability at diagnosis in adulthood, 7, 8 as well as the first patient identified with a mutation in the PEX11beta gene. This patient presented with congenital cataracts, mild intellectual disability, progressive hearing loss, sensory nerve involvement, gastrointestinal problems, as well as recurrent migraine-like episodes. 9 All peroxisome biogenesis disorders leading to ZSS are inherited in a autosomal-recessive manner and can be caused by mutations in any of the 13 human PEX genes mentioned above (see 1.3). 10 PEX genes encode peroxins. These are proteins required for proper peroxisomal assembly including protein targeting and protein import.
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多种先天性缺陷的家族综合症。
DOI：
--
发表时间：
1964
期刊：
Bulletin of the Johns Hopkins Hospital
影响因子：
--
作者：
P. Bowen;C. S. Lee;H. Zellweger;R. Lindenberg
通讯作者：
R. Lindenberg
影响因子：
5.2
作者：
Krause, Cindy;Rosewich, Hendrik;Gaertner, Jutta
通讯作者：
Gaertner, Jutta
影响因子：
3.7
作者：
Sevin C;Ferdinandusse S;Waterham HR;Wanders RJ;Aubourg P
通讯作者：
Aubourg P
影响因子：
4
作者：
Ebberink, Mere S.;Csanyi, Barbara;Ferdinandusse, Sacha
通讯作者：
Ferdinandusse, Sacha
具有 PEX1 突变的 Zellweger 谱系患者的遗传和临床方面
影响因子：
4
作者：
H. Rosewich;A. Ohlenbusch;J. Gärtner
通讯作者：
J. Gärtner