Evidence that SIZN1 is a candidate X-linked mental retardation gene.
Evidence that SIZN1 is a candidate X-linked mental retardation gene.
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DOI：
10.1002/ajmg.a.32472
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发表时间：
2008-10-15
影响因子：
2
通讯作者：
Srivastava, Anand K.
中科院分区：
文献类型：
--
作者：
Cho, Ginam;Bhat, Shambhu S.;Gao, Jinsong;Collins, Julianne S.;Rogers, R. Curtis;Simensen, Richard J.;Schwartz, Charles E.;Golden, Jeffrey A.;Srivastava, Anand K.
据估计，在美国有1-3%的人被诊断患有精神发育迟滞（MR），但近50%的患者的原因不明。虽然已经确定了几种环境，遗传和组合致畸病因，许多致病基因仍有待确定。此外，MR的发病机制是已知的这些基因很少。男性MR的发病率更高，涉及X染色体上的基因。我们最近在X染色体上发现了一个新的基因SIZN 1，并表明它在调节BMP信号通路中起作用。此外，我们已经表明，该基因是必要的基底前脑胆碱能神经元（BFCN）的特异性基因表达。鉴于当BFCN丢失或功能中断时认知功能受损，我们对认知受损的男性进行了SIZN 1突变的筛查。我们报告四个不同的序列变异SIZN 1在11个人与非综合征性X连锁精神发育迟滞。我们的数据暗示SIZN 1作为X连锁精神发育迟滞和/或作为神经认知功能修饰剂的候选基因。
An estimated 1-3% of individuals within the United States are diagnosed with mental retardation (MR), yet the cause is unknown in nearly 50% of the patients. While several environmental, genetic and combined teratogenetic etiologies have been identified, many causative genes remain to be identified. Furthermore, the pathogenetic mechanisms underlying MR are known for very few of these genes. Males have a much higher incidence of MR implicating genes on the X-chromosome. We have recently identified a novel gene, SIZN1, on the X-chromosome and showed that it functions in modulating the BMP signaling pathway. Furthermore, we have shown this gene is necessary for basal forebrain cholinergic neuron (BFCN) specific gene expression. Given that cognitive function is impaired when BFCNs are lost or functionally disrupted, we undertook a screen of cognitively impaired males for SIZN1 mutations. We report on four different sequence variants in SIZN1 in 11 individuals with nonsyndromic X-linked mental retardation. Our data implicate SIZN1 as a candidate gene for X-linked mental retardation and/or as a neurocognitive functional modifier.
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影响因子：
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通讯作者：
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