Clinical spectrum of eye malformations in four patients with Mowat–Wilson syndrome. (21st April 2015)

• Record Type: Journal Article
• Authors: Bourchany, A.; Giurgea, I.; Thevenon, J.; Goldenberg, A.; Morin, G.; Bremond‐Gignac, D.; Paillot, C.; Lafontaine, P. O.; Thouvenin, D.; Massy, J.; Duncombe, A.; Thauvin‐Robinet, C.; Masurel‐Paulet, A.; Chehadeh, S. El; Huet, F.; Bron, A.; Creuzot‐Garcher, C.; Lyonnet, S.; Faivre, L.
• Is Part Of: American journal of medical genetics. Volume 167:Number 7(2015:Jul.)
• Page Start: 1587
• Page End: 1592
• Publication Date: 2015-04-21
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36898
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36898-sec-0001" sec-type="section"> <p>Mowat–Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E‐box‐binding homeobox2 gene (<italic>ZEB2</italic>) cause MWS. <italic>ZEB2</italic> encodes for Smad‐interacting protein 1, a transcriptional co‐repressor involved in TGF‐beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal colobomas, atrophy or absence of the optic nerve, hyphema, and deep refraction troubles, sometimes with severe visual consequences. All eye malformations were asymmetric and often unilateral and all eye segments were affected, similarly to the nine MWS cases with ophthalmological malformations previously reported (iris/chorioretinal/optic disc coloboma, optic nerve atrophy, retinal epithelium atrophy, cataract, and korectopia). In human embryo, <italic>ZEB2</italic> is expressed in lens and neural retina. Using the present report and data from the literature, we set out to determine whether or not the presence of eye manifestations could be due to specific type or location of mutations. We concluded that the presence of eye malformations, although a rare feature in MWS, should be considered as a part of the clinical spectrum of the condition. © 2015 Wiley Periodicals, Inc.</p> </sec> </abstract>