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

Molecular Cytogenetics

Liyang Liang²  Zhe Meng²  Junping Zhu¹  Mengfan Chen¹  Lina Zhang²  Haiming Yuan³ 

[1] Guangzhou kingmed center for clinical laboratory Co., Ltd, Guangzhou 510330, , Guangdong, China;Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou 510120, , Guangdong, China;KingMed School of Laboratory Medicine Guangzhou Medical University, Guangzhou 510330, , Guangdong, China

关键词: ZEB2-triplication;    Behavioral abnormalities;    Congenital anomalies;    Developmental delay;    Intellectual disability;    Distinctive facial features;    Mowat-Wilson syndrome;   

Others  :  1235123
DOI  :  10.1186/s13039-015-0206-8

 received in 2015-08-20, accepted in 2015-12-18,  发布年份 2015

【 摘 要 】

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.

Case Presentation

Here we report a 2-year-2-month-old boy carrying a de novo 2.9 Mb complex copy number gain at 2q22.3 involving triplication of ZEB2 gene. The boy is characterized by intrauterine growth retardation, hypotonia, cognitive impairment, multiple congenital anomalies and behavioral abnormalities.

Conclusion

This case provides evidence that triplication of ZEB2 gene may be clinical significance and ZEB2 gene is likely to be a dosage sensitive gene.

【 授权许可】

   
2015 Yuan et al.

【 图 表 】

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