A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities

详细信息    查看全文

• 作者：Haiming Yuan ; Lina Zhang ; Mengfan Chen ; Junping Zhu ; Zhe Meng…
• 关键词：Mowat ; Wilson syndrome ; Distinctive facial features ; Intellectual disability ; Developmental delay ; Congenital anomalies ; Behavioral abnormalities ; ZEB2 ; triplication
• 刊名：Molecular Cytogenetics
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：8
• 期：1
• 全文大小：1,196 KB
• 刊物主题：Cytogenetics; Molecular Medicine;
• 出版者：BioMed Central
• ISSN：1755-8166

文摘

Background Mowat-Wilson syndrome (MWS) is a genetic condition characterized by distinctive facial features, moderate to severe intellectual disability, developmental delay and multiple congenital anomalies. MWS is caused by heterozygous mutations or deletions of the ZEB2 gene located on chromosome 2q22.3. At present, over 190 cases with mutations and deletions involving the ZEB2 gene have been reported, but triplication or duplication of reciprocal region of Mowat-Wilson syndrome has never been reported.