1. Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome.
- Author
-
Seidahmed MZ, Maddirevula S, Miqdad AM, Al Faifi A, Al Samadi A, and Alkuraya FS
- Subjects
- Abnormalities, Multiple diagnostic imaging, Abnormalities, Multiple embryology, Adult, Agenesis of Corpus Callosum diagnostic imaging, Agenesis of Corpus Callosum genetics, Amino Acid Sequence, Amino Acid Substitution, Arachnodactyly diagnostic imaging, Arachnodactyly embryology, Blepharophimosis diagnostic imaging, Blepharophimosis embryology, Child, Clubfoot diagnosis, Clubfoot embryology, Clubfoot genetics, Connective Tissue Diseases diagnostic imaging, Connective Tissue Diseases embryology, Consanguinity, Contracture diagnostic imaging, Contracture embryology, Dandy-Walker Syndrome diagnostic imaging, Dandy-Walker Syndrome embryology, Dandy-Walker Syndrome genetics, Female, Genetic Association Studies, Humans, Intellectual Disability genetics, Ion Channels deficiency, Male, Pedigree, Sequence Alignment, Sequence Homology, Amino Acid, Ultrasonography, Prenatal, Abnormalities, Multiple genetics, Arachnodactyly genetics, Blepharophimosis genetics, Connective Tissue Diseases genetics, Contracture genetics, Ion Channels genetics
- 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., (© 2020 Wiley Periodicals LLC.)
- Published
- 2021
- Full Text
- View/download PDF