Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome

Autor: Abdullah Al Faifi, Sateesh Maddirevula, Abdulmohsen Al Samadi, Abeer M. Miqdad, Fowzan S. Alkuraya, Mohammed Zain Seidahmed
Rok vydání: 2020
Předmět:
Zdroj: American journal of medical genetics. Part AREFERENCES. 185(3)
ISSN: 1552-4833
Popis: 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.
Databáze: OpenAIRE