Abstract : : Primary asplenia is a rare condition with poorly known etiology. Mowat-Wilson syndrome (MWS) is characterized by typical facial dysmorphisms, intellectual disability, microcephaly, epilepsy and the possible presence of internal organ malformations. It is caused by heterozygous mutations or deletions in the ZEB2 gene. Nearly 180 patients have been reported to date, but only one with asplenia. We report here spleen hypo/aplasia in 4 out of 6 MWS patients, with severe infectious complications for 3 of them. Our report shows that spleen hypo/aplasia is part of the MWS phenotype and makes ZEB2 a possible candidate gene for primary asplenia.
https://www.hal.inserm.fr/inserm-00927620 Contributor : Ed. BMCConnect in order to contact the contributor Submitted on : Monday, January 13, 2014 - 1:06:07 PM Last modification on : Tuesday, April 12, 2022 - 10:12:08 AM Long-term archiving on: : Sunday, April 13, 2014 - 10:50:51 PM
Linda Pons, Sophie Dupuis-Girod, Marie-Pierre Cordier, Patrick Edery, Massimiliano Rossi. ZEB2, a new candidate gene for asplenia.. Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9 (1), pp.2. ⟨10.1186/1750-1172-9-2⟩. ⟨inserm-00927620⟩