Open AccessMowat-Wilson syndrome in a Moroccan consanguineous family
Author(s) -
Ilham Ratbi,
Chafai Siham Elalaoui,
Moal Florence Dastot-Le,
Michel Goossens,
Irina Giurgea,
Abdelaziz Sefiani
Publication year - 2007
Publication title -
indian journal of human genetics
Language(s) - English
Resource type - Journals
eISSN - 0971-6866
pISSN - 1998-362X
DOI - 10.4103/0971-6866.38988
Subject(s) - agenesis of the corpus callosum , agenesis , consanguineous marriage , corpus callosum , genetics , variable expression , mutation , medicine , congenital disorder , epilepsy , pediatrics , corpus callosum agenesis , genitourinary system , consanguinity , gene , biology , anatomy , psychiatry
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.