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Open Access 01-12-2014 | Letter to the Editor

ZEB2, a new candidate gene for asplenia

Authors: Linda Pons, Sophie Dupuis-Girod, Marie-Pierre Cordier, Patrick Edery, Massimiliano Rossi

Published in: Orphanet Journal of Rare Diseases | Issue 1/2014

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.

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Title: ZEB2, a new candidate gene for asplenia
Authors: Linda Pons
Sophie Dupuis-Girod
Marie-Pierre Cordier
Patrick Edery
Massimiliano Rossi
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2014
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/1750-1172-9-2

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

ZEB2, a new candidate gene for asplenia

Abstract

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

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