1. ZEB2, a new candidate gene for asplenia
- Author
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Massimiliano Rossi, Patrick Edery, Linda Pons, Marie-Pierre Cordier, Sophie Dupuis-Girod, BMC, Ed., Service de Génétique, Hospices Civils de Lyon (HCL)-Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL)-Groupe Hospitalier Est, Translational and Integrative Group in Epilepsy Research (TIGER), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Service de Génétique, and Hospices Civils de Lyon (HCL)-Groupe Hospitalier Est-Hospices Civils de Lyon (HCL)-Hôpital Louis Pradel [CHU - HCL]
- Subjects
Microcephaly ,Pathology ,medicine.medical_specialty ,Candidate gene ,Asplenia ,Mowat–Wilson syndrome ,Spleen ,[SDV.GEN] Life Sciences [q-bio]/Genetics ,Biology ,Epilepsy ,medicine ,Mowat-Wilson syndrome ,Genetics(clinical) ,Pharmacology (medical) ,Letter to the Editor ,Genetics (clinical) ,ZEB2 ,Medicine(all) ,Genetics ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,General Medicine ,Aplasia ,medicine.disease ,medicine.anatomical_structure ,Etiology - Abstract
International audience; : 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.
- Published
- 2014