Mowat-Wilson syndrome is a genetic disease caused by heterozygous mutations or deletions of the zinc finger E-box-binding homeobox 2 (ZEB2) gene. The syndrome is characterized by typical facial features, moderate-to-severe mental retardation, epilepsy and variable congenital malformations, including Hirschsprung disease, genital anomalies, congenital heart disease, agenesis of the corpus callosum, and eye defects. The prevalence of Mowat-Wilson syndrome is currently unknown, but it seems that Mowat-Wilson syndrome is underdiagnosed, particularly in patients without Hirschsprung disease. We report here the first Egyptian case of Mowat-Wilson syndrome who was conceived by intracytoplasmic sperm injection. The patient manifested bilateral sensorineural hearing loss--a new feature not previously reported in cases of Mowat-Wilson syndrome. This report describes the first Egyptian patient of Mowat-Wilson syndrome who was conceived after intracytoplasmic sperm injection, and provides a new evidence for the inclusion of deafness among the congenital defects of the syndrome.
Mowat - Wilson syndrome is a genetic disease caused by heterozygous mutations or deletions of the zinc finger E - box - binding homeobox 2 ( ZEB2 ) gene . The syndrome is characterized by typical facial features , moderate - to - severe mental retardation , epilepsy and variable congenital malformations , including Hirschsprung disease , genital anomalies , congenital heart disease , agenesis of the corpus callosum , and eye defects . The prevalence of Mowat - Wilson syndrome is currently unknown , but it seems that Mowat - Wilson syndrome is underdiagnosed , particularly in patients without Hirschsprung disease . We report here the first Egyptian case of Mowat - Wilson syndrome who was conceived by intracytoplasmic sperm injection . The patient manifested bilateral sensorineural hearing loss -- a new feature not previously reported in cases of Mowat - Wilson syndrome . This report describes the first Egyptian patient of Mowat - Wilson syndrome who was conceived after intracytoplasmic sperm injection , and provides a new evidence for the inclusion of deafness among the congenital defects of the syndrome .
Which gene is responsible for the development of the Mowat-Wilson syndrome?
Which gene is responsible for the development of the Mowat - Wilson syndrome ?
ZEB2
ZFHX1B ZEB2 SIP-1