SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations

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• 作者：Yuri A. Zarate and Jennifer L. Fish
• 刊名：American Journal of Medical Genetics Part A
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：173
• 期：2
• 页码：327-337
• 全文大小：632K
• ISSN：1552-4833

文摘

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.