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

Overview of attention for article published in Molecular Cytogenetics, December 2015
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Title
A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities
Published in
Molecular Cytogenetics, December 2015
DOI 10.1186/s13039-015-0206-8
Pubmed ID
Authors

Haiming Yuan, Haiming Yuan, Lina Zhang, Mengfan Chen, Junping Zhu, Zhe Meng, Liyang Liang

Abstract

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

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 17 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 24%
Student > Doctoral Student 2 12%
Student > Bachelor 2 12%
Student > Postgraduate 2 12%
Professor 1 6%
Other 2 12%
Unknown 4 24%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 4 24%
Agricultural and Biological Sciences 2 12%
Nursing and Health Professions 2 12%
Neuroscience 2 12%
Medicine and Dentistry 2 12%
Other 1 6%
Unknown 4 24%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 28 December 2015.
All research outputs
#5,134,122
of 6,886,791 outputs
Outputs from Molecular Cytogenetics
#139
of 215 outputs
Outputs of similar age
#203,544
of 298,544 outputs
Outputs of similar age from Molecular Cytogenetics
#23
of 35 outputs
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