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Journal of Pediatric Neurology 2022; 20(06): 440-444
DOI: 10.1055/s-0042-1749670
Case Report

Deletion of 2q22.2q22.3 in Mowat–Wilson Syndrome: A Case Report and Review of the Literature

Manisha Goyal
1   Centre of Rare Diseases, Department of Pediatrics, SMS Medical College, Jaipur Rajasthan, India
,
Mohammed Faruq
2   Department of Genomics, CSIR Institute of Genomics and Integrative Biology, New Delhi, India
,
Ashok Gupta
1   Centre of Rare Diseases, Department of Pediatrics, SMS Medical College, Jaipur Rajasthan, India
,
Divya Shrivastava
3   Department of Life sciences, Jaipur National University, Jaipur, Rajasthan, India
,
Uzma Shamim
2   Department of Genomics, CSIR Institute of Genomics and Integrative Biology, New Delhi, India
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Abstract

Mowat–Wilson syndrome (MWS; Online Mendelian Inheritance in Man #235730) is a rare disorder characterized by developmental delay, severe intellectual disability, distinctive facial dysmorphism, and multiple associated abnormalities caused by mutation or deletion of ZEB2 gene. Here we report a 13 months old boy with characteristic facial features of MWS, global developmental delay, peculiar behavior, microcephaly, and hypospadias. Array comparative genomic hybridization (CGH) revealed a 5.7-Mb deletion of 2q22.2q22.3 region. The deletion contains 10 genes, including LRP1B, KYNU, ARHGAP15, GTDC1, ZEB2, ZEB2-AS1, TEX41, MBD5, ORC4, and ACVR2A. Our case shows the utility of array CGH in identifying such complex phenotype.

Keywords

2q22.2q22.3 deletion - ZEB2 gene - chromosome microarray - hypospadias - developmental delay


Publication History

Received: 10 February 2022

Accepted: 20 April 2022

Article published online:
02 August 2022

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