Phenotypic Variability in a Family with Aicardi-Goutières Syndrome Due to the Common A177T RNASEH2B Mutation
Phenotypic Variability in a Family with Aicardi-Goutières Syndrome Due to the Common A177T RNASEH2B Mutation
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A177T RNASEH2B 常见突变导致 Aicardi-Goutières 综合征家族的表型变异
DOI：
10.4236/crcm.2014.33037
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发表时间：
2014
期刊：
影响因子：
--
通讯作者：
M. Lee
中科院分区：
文献类型：
--
作者：
V. Tüngler;F. Schmidt;S. Hieronimus;Claudio Reyes;M. Lee
Aicardi-Goutieres综合征(AGS)是一种罕见的
模仿的炎症性脑病
宫内获得性病毒感染。主要发现包括脑白质营养不良。
神经节钙化和脑萎缩伴脑脊液
淋巴细胞增多和干扰素-α升高。在大多数情况下，AGS是
常染色体隐性遗传，由6个基因突变引起
包括RNASE_2A、RNASE_2B、RNASE_2C、TREX1、SAMHD1和ADAR1，它们都编码作用于核酸物种的酶。
大多数患者在婴儿期早期就表现出第一批神经系统症状，
经历严重的全球发育迟缓。在这里，我们报道了一件不寻常的事情
两种不同的表型
这两个兄弟姐妹都携带最频繁的AGS，导致P.A177T(C.529G>；A)RNASE H 2B突变处于纯合子状态。而其中一个兄弟姐妹表现出典型的AGS
表现为起病早，有严重的动静和智力障碍，
兄长在智力上完全正常。她只是
诊断原因是腿部轻度痉挛和自身免疫的血清学迹象。这些发现
强调AGS的表型变异性，并建议AGS可能被低估
患有轻度脑瘫的儿童。
Aicardi-Goutieres syndrome (AGS) is a rare
inflammatory encephalopathy mimicking in
utero acquired viral infection. Cardinal findings comprise leukodystrophy, basal
ganglia calcifications and cerebral atrophy along with cerebrospinal fluid
lymphocytosis and elevated interferon-α. In the majority of cases AGS is
inherited as an autosomal recessive trait and caused by mutations in six genes
including RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1 and ADAR1, all of which encode enzymes acting on nucleic acid species.
Most patients present with first neurological signs in early infancy and
experience severe global developmental delay. Here, we report on the unusual
divergent phenotype of two
siblings who both carry the most frequent AGS causing p.A177T (c.529G > A) RNASEH2B mutation in the homozygous state. While one sibling showed a typical AGS
presentation with early onset and severe statomotor and mental impairment, the
older sibling was intellectually completely normal. She was only
diagnosed because of mild spasticity of the legs and serological signs of autoimmunity. These findings
highlight the phenotypic variability of AGS and suggest that AGS may be underdiagnosed among
children with mild cerebral palsy.
影响因子：
9.8
作者：
Rice, Gillian;Patrick, Teresa;Crow, Yanick J.
通讯作者：
Crow, Yanick J.