De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy

Keller N., Paketci C., Edem P., Thiele H., YİŞ U., Wirth B., ...Daha Fazla

EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.64, sa.2, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 64 Sayı: 2
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1016/j.ejmg.2020.104134
  • Dergi Adı: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Anahtar Kelimeler: DNM1L, DRP1, Sensory polyneuropathy, Muscular atrophy, Mitochondrial fission
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

DNM1L encodes dynamin-related protein 1 (DRP1), a multi-domain GTPase essential for mitochondrial and peroxisomal division. Autosomal dominant and recessive variants in DNM1L cause encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1), which presents as a complex and clinically heterogeneous neurological disorder of variable severity, often accompanied by seizures. Clinical features are diverse, and no clear phenotype-genotype correlations were drawn to date. DNM1L-related sensory neuropathy has recently been reported as a predominant feature in one case with a de novo variant in the GTPase domain. Herein we present a second case with DNM1L-related sensory neuropathy as the predominant underlying feature without motor neuron involvement, which resulted in severe muscular atrophy and generalized dystonia.