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

Mohammed Zain Seidahmed, Sateesh Maddirevula, Abeer M Miqdad, Abdullah Al Faifi, Abdulmohsen Al Samadi, Fowzan S Alkuraya

Journal: American journal of medical genetics. Part A 2021;185(3):945-948

PMID: 33369052

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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.

Address: Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

DOI: 10.1002/ajmg.a.62052

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MeSH Terms: Abnormalities, Multiple, Adult, Agenesis of Corpus Callosum, Amino Acid Sequence, Amino Acid Substitution, Arachnodactyly, Blepharophimosis, Child, Clubfoot, Connective Tissue Diseases, Consanguinity, Contracture, Dandy-Walker Syndrome, Female, Genetic Association Studies, Humans, Intellectual Disability, Ion Channels, Male, Pedigree, Sequence Alignment, Sequence Homology, Amino Acid, Ultrasonography, Prenatal