Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Am J Med Genet A. 2021 Mar;185(3):945-948. doi: 10.1002/ajmg.a.62052. Epub 2020 Dec 27.
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.
致病的 PIEZO2 杂合变异通常导致 5 型远端关节挛缩症（DA5）和密切相关的 Gordon 综合征（GS）。迄今为止，仅报道了一例与 PIEZO2 相关的 Marden-Walker 综合征（MWS）病例。我们报告了一位沙特女性患者的表型特征，该患者具有与 MWS 一致的特征，我们在其 PIEZO2 中发现了一种新的可能致病的新生杂合变异。我们的病例支持 PIEZO2 与 MWS 之间的联系。
