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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.

SUBMITTER: Ratbi I 

PROVIDER: S-EPMC3168139 | biostudies-literature | 2007 Sep

REPOSITORIES: biostudies-literature

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Mowat-Wilson syndrome in a Moroccan consanguineous family.

Ratbi Ilham I   Elalaoui Chafai Siham CS   Dastot-Le Moal Florence MF   Goossens Michel M   Giurgea Irina I   Sefiani Abdelaziz A  

Indian journal of human genetics 20070901 3


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 par  ...[more]

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