Confirming the involvement of PIEZO2 in the etiology of Marden–Walker syndrome. Issue 3 (27th December 2020)

• Record Type: Journal Article
• Authors: Seidahmed, Mohammed Zain; Maddirevula, Sateesh; Miqdad, Abeer M.; Al Faifi, Abdullah; Al Samadi, Abdulmohsen; Alkuraya, Fowzan S.
• Is Part Of: American journal of medical genetics. Volume 185:Issue 3(2021)
• Page Start: 945
• Page End: 948
• Publication Date: 2020-12-27
• Subjects: arthrogryposis multiplex congenita -- blepharophimosis -- Dandy–Walker malformation -- Marden–Walker syndrome; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.62052
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: Pathogenic heterozygous variants in PIEZO2 typically cause distal arthrogryposis type 5 (DA5) and the closely related Gordon syndrome (GS). Only one case of PIEZO2 ‐related Marden–Walker syndrome (MWS) has been reported to date. We report the phenotypic features of a Saudi female patient with features consistent with MWS in whom we identified a novel de novo likely pathogenic variant in PIEZO2 . Our case lends support to the link between PIEZO2 and MWS.