Pons Linda, Dupuis-Girod Sophie, Cordier Marie-Pierre, Edery Patrick, Rossi Massimiliano
Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique et Centre de référence des anomalies du développement, Bron F-69677, France.
Orphanet J Rare Dis. 2014 Jan 8;9:2. doi: 10.1186/1750-1172-9-2.
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 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 a possible candidate gene for primary asplenia.