Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene

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KÖSE E., Kose M., Edizer S., Akisin Z., Yilmaz Z. B., Sahin A., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.62, sa.4, ss.652-656, 2020 (SCI-Expanded, Scopus, TRDizin)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 62 Sayı: 4
  • Basım Tarihi: 2020
  • Doi Numarası: 10.24953/turkjped.2020.04.016
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.652-656
  • Anahtar Kelimeler: FBXL4, MTDPSI3, novel variants, MITOCHONDRIAL, ENCEPHALOPATHY, MUTATIONS
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Ankara Üniversitesi Adresli: Evet

Özet

Background. The recently described FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 13 (MTDPS13) manifests with severe encephalopathy, early-onset lactic acidosis, hypotonia, developmental delay and feeding difficulty. Less than 100 cases with FBXL4-related MTDPSI3 and 47 pathogenic mutations in the FBXL4 gene have been identified thus far. Here, we describe a patient diagnosed with MTDPSI3 with two novel variants of the FBXL4 gene.