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.
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Article Synopsis
- Pathogenic variants in the PIEZO2 gene are linked to various syndromes, including Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5, with Marden-Walker syndrome having a clearer phenotype compared to the others.
- A case study identified a patient with Marden-Walker syndrome and a novel PIEZO2 variant, along with another girl exhibiting Gordon syndrome, both showing brain anomalies like Dandy-Walker malformation through neuroimaging.
- The findings indicate that disorders related to PIEZO2 share overlapping traits, suggesting a continuum in their phenotypes, although the specific mechanisms of how PIEZO2 affects hindbrain development are still not fully understood.*
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Distal arthrogryposes (DA) are a group of conditions presenting with multiple congenital contractures in the distal joints. The 10 types of DA are distinguished by different extra-articular manifestations. Heterozygous gain-of-function variants in PIEZO2 are known to cause a spectrum of DA conditions including DA type 3, DA type 5, and possibly Marden Walker syndrome, which are usually distinguished by the presence of cleft palate (DA3), ptosis and restriction in eye movements (DA5), and specific facial abnormalities and central nervous system involvement, respectively.
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