SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
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DOI：
10.1002/ajmg.a.38022
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发表时间：
2017-02
期刊：
影响因子：
--
通讯作者：
Fish JL
中科院分区：
文献类型：
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作者：
Zarate YA;Fish JL
SATB 2相关综合征是一种最近描述的综合征，其特征为发育迟缓/智力残疾伴语言发育缺失或受限、颅面异常、行为问题、畸形特征以及腭和牙齿异常。SATB 2基因的改变可以由多种不同的机制引起，包括连续缺失、基因内缺失和重复、具有次级基因破坏的易位和点突变。这种综合征的多系统性质需要多系统的方法，我们提出了评估和管理指南。SATB 2相关综合征登记研究现已启动，这将允许收集更多临床信息并完善提供的监测建议。版权所有2016作者.美国医学遗传学杂志A部分由Wiley期刊公司出版。
The SATB2‐associated syndrome is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities, behavioral problems, dysmorphic features, and palatal and dental abnormalities. Alterations of the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations. The multisystemic nature of this syndrome demands a multisystemic approach and we propose evaluation and management guidelines. The SATB2‐associated syndrome registry has now been started and that will allow gathering further clinical information and refining the provided surveillance recommendations. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.