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- Title
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report.
- Authors
Beijer, Danique; Polavarapu, Kiran; Preethish-Kumar, Veeramani; Bardhan, Mainak; Dohrn, Maike F.; Rebelo, Adriana; Züchner, Stephan; Nalini, Atchayaram
- Abstract
Mutations in PLEKHG5, a pleckstrin homology domain containing member of the GEF family, are associated with distal spinal muscular atrophy and intermediate Charcot-Marie-Tooth disease. Here, we describe an isolated case with distal intermediate neuropathy with scapular winging. By whole exome sequencing, we identified the homozygous PLEKHG5 Arg97Gln missense mutation, located in the N-terminal region of the protein. This mutation resides between a zinc-finger motif and a RBD domain, involved in binding rnd3, a RhoA effector protein. We conclude that based on the characteristic phenotype presented by the patient and the supportive genetic findings, the PLEKHG5 mutation is the causative variant.
- Publication
Journal of Neuromuscular Diseases, 2022, Vol 9, Issue 2, p347
- ISSN
2214-3599
- Publication type
Article
- DOI
10.3233/JND-210716