Affiliation:
1. Centre of Rare Diseases, Department of Pediatrics, SMS Medical College, Jaipur Rajasthan, India
2. Department of Genomics, CSIR Institute of Genomics and Integrative Biology, New Delhi, India
3. Department of Life sciences, Jaipur National University, Jaipur, Rajasthan, India
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.
Subject
Neurology (clinical),Pediatrics, Perinatology and Child Health
Cited by
1 articles.
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