Expanding the genotype-phenotype spectrum of autosomal recessive Charcot-Marie-Tooth disease: A novel PLEKHG5 gene mutation

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Yayici Koken O., Oztoprak Ü., Topcu V., Cavdarli B., Temuçin Ç. M., Aydıngöz Ü., ...Daha Fazla

NEUROLOGY ASIA, cilt.26, sa.3, ss.607-612, 2021 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 26 Sayı: 3
  • Basım Tarihi: 2021
  • Doi Numarası: 10.54029/2021jmr
  • Dergi Adı: NEUROLOGY ASIA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE
  • Sayfa Sayıları: ss.607-612
  • Anahtar Kelimeler: PLEKHG5 gene, Charcot-Marie-Tooth disease, autosomal recessive, peripheral neuropathy, FORM
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Autosomal recessive intermediate Charcot Marie Tooth (CMT) disease type C is a very rarely-seen neurogenetic disorder. Homozygous or compound heterozygous mutation in the Pleckstrin homology domain-containing family G member 5 (PLEKHG5) gene on chromosome 1p36 was recently reported in patients with CMT. From the first description of the disease to date, almost 40 different variants associated with the PLEKHG5 gene were identified. Here, we present an adolescent girl who was thought initially to be myopathy because of progressive proximal muscle weakness. The electrophysiologic study revealed axonal sensory and motor neuropathy with some demyelinating features. She was diagnosed with autosomal recessive inheritance, intermediate CMT disease type C with a novel homozygous mutation in the PLEKHG5 gene in clinical exome sequencing as c.16002A>G by next-generation sequencing. We describe here the novel mutation in the PLEKHG5 gene and the genotype-phenotype correlation.