First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype

AYAZ A., Doğru Z., KILIÇ B., Süzek B. E.

Clinical Neurology and Neurosurgery, cilt.221, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 221
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1016/j.clineuro.2022.107418
  • Dergi Adı: Clinical Neurology and Neurosurgery
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, EMBASE, MEDLINE
  • Anahtar Kelimeler: RANBP2, Autosomal recessive, P, I656V, Biallelic mutation, Homozygous
  • İstanbul Medipol Üniversitesi Adresli: Evet

Özet

Familial acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur after common viral infections at different stages of life. The clinical findings of 2 siblings diagnosed with ANE were shared and the whole-exome-sequencing study of the index case was performed. It was confirmed by the Sanger method. We found the RANBP2 gene p.I656V variant homozygous in the index case. We found the variant in the parents as heterozygous. We argue that biallelic mutations in the RANBP2 gene may result in ANE with early onset and severe prognosis by increasing penetrance.