[CASE REPORT] Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: a case report-Reference-Cited by-同舟云学术

[CASE REPORT] Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: a case report

Published:2021-12-05 Issue: Volume: Page:1-5
ISSN:2214-3599
Container-title:Journal of Neuromuscular Diseases
language:
Short-container-title:JND

Author:

Beijer Danique¹,Polavarapu Kiran²,Preethish-Kumar Veeramani²,Bardhan Mainak³,Dohrn Maike F.¹,Rebelo Adriana¹,Züchner Stephan¹,Nalini Atchayaram³

Affiliation:

1. Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA

2. Children’s Hospital of Eastern Ontario ResearchInstitute; Division of Neurology, Department of Medicine, The Ottawa Hospital; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada

3. Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India

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.

Publisher

IOS Press

Subject

Clinical Neurology,Neurology

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