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01.12.2014 | Letter to the Editor | Ausgabe 1/2014 Open Access

Orphanet Journal of Rare Diseases 1/2014

ZEB2, a new candidate gene for asplenia

Orphanet Journal of Rare Diseases > Ausgabe 1/2014
Linda Pons, Sophie Dupuis-Girod, Marie-Pierre Cordier, Patrick Edery, Massimiliano Rossi


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.
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