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.
Keywords:
Dandy-Walker malformation; Marden-Walker syndrome; arthrogryposis multiplex congenita; blepharophimosis.
© 2020 Wiley Periodicals LLC.
Publication types
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Case Reports
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Comparative Study
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Review
MeSH terms
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Abnormalities, Multiple / diagnostic imaging
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Abnormalities, Multiple / embryology
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Abnormalities, Multiple / genetics*
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Adult
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Agenesis of Corpus Callosum / diagnostic imaging
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Agenesis of Corpus Callosum / genetics
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Amino Acid Sequence
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Amino Acid Substitution
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Arachnodactyly / diagnostic imaging
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Arachnodactyly / embryology
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Arachnodactyly / genetics*
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Blepharophimosis / diagnostic imaging
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Blepharophimosis / embryology
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Blepharophimosis / genetics*
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Child
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Clubfoot / diagnosis
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Clubfoot / embryology
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Clubfoot / genetics
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Connective Tissue Diseases / diagnostic imaging
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Connective Tissue Diseases / embryology
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Connective Tissue Diseases / genetics*
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Consanguinity
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Contracture / diagnostic imaging
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Contracture / embryology
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Contracture / genetics*
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Dandy-Walker Syndrome / diagnostic imaging
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Dandy-Walker Syndrome / embryology
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Dandy-Walker Syndrome / genetics
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Female
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Genetic Association Studies
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Humans
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Intellectual Disability / genetics
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Ion Channels / deficiency
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Ion Channels / genetics*
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Male
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Pedigree
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Sequence Alignment
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Sequence Homology, Amino Acid
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Ultrasonography, Prenatal
Substances
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Ion Channels
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PIEZO2 protein, human