A Review on Mowat-Wilson Disorder
Humeera Rafeeq*, Osman Ahmed, Sohail Ali, Mohd Younus, Mohd Bilal
Deletions or the heterozygous mutations of ZEB2 gene leads to genetic disease namely Mowat-Wilson disorder. At chromosome 2q21-q23 a locus was identified, which was firstly described in 1998 by Mowat et al., the cause of Mowat-Wilson disorder was discovered independently by two groups in 2001 as deletion or the mutation of the ZEB2 gene. With the changes in age, quite difference is seen in facial phenotype. Neurologic findings and behavior were done on basis of Hirschsprung disease, Other oropharyngeal and gastrointestinal findings, Congenital heart disease, Genitourinary, Musculoskeletal, Eye defects, Hearing function, Teeth anomalies, Skin and Other clinical features. Facial gestalt is important heart diseases, corpus callosum agenesis, HSCR (Hirschsprung disease) like serious malformations are common despite of its presence. An atypical clinical picture is shown by few patients with mutations occurring rarely. ZEB2 gene molecular analysis should be done in all cases. On the core of facial phenotype, the differential diagnosis is done which is confirmed by ZEB2 gene mutational analysis. Goldberg-Shprintzen syndrome is diagnosed by intragenic mutations in a patient possessing short segment HSCR, mental retardation, distinct facial appearance and microcephaly in the ZEB2 absence. Three patients died of which one patient death was mainly due to seizures and large deletion in neonatal period. Till date the oldest patient of Mowat-Wilson reported is 30 years old. All the Mowat-Wilson disorder cases have been irregular or periodical, caused by the de novo deletions or mutations in the ZFHX1B. In a sporadic Mowat-Wilson disorder affected patient, families are counseled and reported as with the low recurrence risk.
Mowat-Wilson Disorder, Hirschsprung Disease (HSCR), ZEB2 Gene, Goldberg-Shprintzen Syndrome (GOSHS), ZFHX1B Bilayer
Cite This Article
Rafeeq, H., Ahmed, O., Ali, S., Younus, M., & Bilal, M. (2015). A Review on Mowat-Wilson Disorder, International Journal for Pharmaceutical Research Scholars, 4(3), 176-181.