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Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Mar; Vol. 185 (3), pp. 945-948. Date of Electronic Publication: 2020 Dec 27. - Publication Year :
- 2021
-
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.<br /> (© 2020 Wiley Periodicals LLC.)
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 185
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 33369052
- Full Text :
- https://doi.org/10.1002/ajmg.a.62052