The ARID1B Phenotype: What We Have Learned so Far
The ARID1B Phenotype: What We Have Learned so Far
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DOI：
10.1002/ajmg.c.31414
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发表时间：
2014-09-01
影响因子：
3.1
通讯作者：
Clayton-Smith, Jill
中科院分区：
文献类型：
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作者：
Santen, Gijs W. E.;Clayton-Smith, Jill
大量测序研究的证据表明，ARID1B不仅是最常见的智力残疾（ID）基因突变之一，而且由ARID1B突变引起的表型范围似乎非常广泛。因此，它是迄今为止外显子组测序时代发现的最有趣的ID基因之一。在本文中，我们回顾了有关ARID1B的文献，并试图描述ARID1B的表型。绝大多数已发表的ARID1B患者是通过对Coffin-Siris综合征（CSS）的研究确定的，这导致在记录表型特征频率时存在偏差。通过外显子组测序研究确定的这些个体的额外观察有助于描述更广泛的临床表型。我们目前正在建立一个ARID1B联盟，旨在收集通过全基因组测序策略确定的ARID1B患者。我们希望这一努力将最终导致对ARID1B表型的更全面的看法。(c) 2014 Wiley期刊公司
Evidence is now accumulating from a number of sequencing studies that ARID1B not only appears to be one of the most frequently mutated intellectual disability (ID) genes, but that the range of phenotypes caused by ARID1B mutations seems to be extremely wide. Thus, it is one of the most interesting ID genes identified so far in the exome sequencing era. In this article, we review the literature surrounding ARID1B and attempt to delineate the ARID1B phenotype. The vast majority of published ARID1B patients have been ascertained through studies of Coffin-Siris syndrome (CSS), which leads to bias when documenting the frequencies of phenotypic features. Additional observations of those individuals ascertained through exome sequencing studies helps in delineation of the broader clinical phenotype. We are currently establishing an ARID1B consortium, aimed at collecting ARID1B patients identified through genome-wide sequencing strategies. We hope that this endeavor will eventually lead to a more comprehensive view of the ARID1B phenotype. (c) 2014 Wiley Periodicals, Inc.