Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report

Danique Beijer, Kiran Polavarapu, Veeramani Preethish-Kumar, Mainak Bardhan, Maike F. Dohrn, Adriana Rebelo, Stephan Züchner, Atchayaram Nalini

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)347-351
Number of pages5
JournalJournal of neuromuscular diseases
Volume9
Issue number2
DOIs
StatePublished - 2022
Externally publishedYes

Keywords

  • Charcot-Marie-Tooth disease
  • genetic diseases
  • high-throughput nucleotide sequencing
  • inborn
  • neurodegenerative diseases

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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