Zarate Yuri A, Fish Jennifer L
Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts.
Am J Med Genet A. 2017 Feb;173(2):327-337. doi: 10.1002/ajmg.a.38022. Epub 2016 Oct 24.
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.
SATB2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，伴有言语发育缺失或受限、颅面畸形、行为问题、畸形特征以及腭部和牙齿异常。SATB2基因的改变可由多种不同机制引起，包括相邻缺失、基因内缺失和重复、伴有继发性基因破坏的易位以及点突变。该综合征的多系统性质需要多系统方法，我们提出了评估和管理指南。目前已启动SATB2相关综合征登记处，这将有助于收集更多临床信息并完善所提供的监测建议。© 2016作者。《美国医学遗传学杂志A辑》由威利期刊公司出版
