Confirming the involvement of <scp><i>PIEZO2</i></scp> in the etiology of <scp>Marden–Walker</scp> syndrome
Mohammed Zain Seidahmed, Sateesh Maddirevula, Abeer M. Miqdad, Abdullah Al Faifi, Abdulmohsen Al Samadi, Fowzan S. Alkuraya
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.
Topics & Concepts
EtiologyMedicineInternal medicineErythrocyte Function and PathophysiologyHemoglobinopathies and Related DisordersFetal and Pediatric Neurological Disorders