A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the CSNK2A1 Gene in a Turkish Patient

Zhuri D., Dusenkalkan F., Alparslan G. T., GÜRKAN H.

Molecular Syndromology, cilt.15, sa.1, ss.43-50, 2024 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 15 Sayı: 1
  • Basım Tarihi: 2024
  • Doi Numarası: 10.1159/000530585
  • Dergi Adı: Molecular Syndromology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.43-50
  • Anahtar Kelimeler: De novo variant, Hypotonia, Neurodevelopmental syndrome, Novel, Whole-exome sequencing
  • Trakya Üniversitesi Adresli: Evet

Özet

Introduction: Okur-Chung neurodevelopmental syndrome (OCNDS; #617062) has been associated with heterozygous mutations in the CSNK2A1 gene (∗115440) mapped on the chromosome's 20p13 region. Case Presentation: The analysis was performed on a 2-year-old patient who was admitted to our genetic diseases evaluation center by his family with a complaint of hypotonia. We detected a heterozygous NM-177559.3 (CSNK2A1):c.1139_1140dupGG (p.Met381- GlyfsTer32) variant in the CSNK2A1 gene from a wholeexome sequence analysis. Conclusion: The variant that we detected has not been reported in open-access databases to date, so it was evaluated as a novel likely pathogenic variant according to the ACMG-2015 criteria. No variant was detected upon segregation analysis of the patient's parents; therefore, the related variant was evaluated as de novo. In this study, we offer the first report of a pathogenic frameshift variant in the CSNK2A1 gene that has a relationship with OCNDS.