title: Mowat-Wilson syndrome in a Moroccan consanguineous family.
abstract: Mowat-Wilson syndrome is a mental retardation-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including Hirschsprung disease, urogenital anomalies, congenital heart disease, and agenesis of the corpus callosum. This disorder is sporadic and is caused by heterozygous mutations or deletions of the ZFHX1B gene located in the 2q22 region. We report here the first Moroccan patient, born to consanguineous parents, with Mowat-Wilson syndrome, due to a de novo, unreported mutation of the ZFHX1B gene.
authors.affiliation: Department of Medical Genetics, National Institute of Health, 27 Avenue Ibn Batouta, Rabat, Morocco.
authors.forename: Ilham
authors.initials: I
authors.lastname: Ratbi
authors.forename: Chafai Siham
authors.initials: CS
authors.lastname: Elalaoui
authors.forename: Moal Florence
authors.initials: MF
authors.lastname: Dastot-Le
authors.forename: Michel
authors.initials: M
authors.lastname: Goossens
authors.forename: Irina
authors.initials: I
authors.lastname: Giurgea
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Sefiani