NTNG2 Mutation: A candidate gene for a new brain-skin disorder with early neuropsychiatric manifestation? An analysis based on 3000 patients

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Acta Medica Alanya, vol.6, no.1, pp.93-99, 2022 (Peer-Reviewed Journal) identifier

  • Publication Type: Article / Article
  • Volume: 6 Issue: 1
  • Publication Date: 2022
  • Doi Number: 10.30565/medalanya.1086508
  • Journal Name: Acta Medica Alanya
  • Journal Indexes: Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.93-99
  • Istanbul Medipol University Affiliated: Yes


Aim: In this study, the relationship between genetic analysis and exome sequencing and clinical and neuroimaging findings of four patients from the same family was investigated by analyzing a clinical and genetic (WES) database containing more than 3000 patients. Methods: We analyzed the WES data of approximately 3000 patients performed in our center in terms of NTNG2 biallelic mutations. In addition, MR imaging findings were investigated. Results: We found four patients with the same mutation in the NTNG2 gene, presenting with similar clinical and neuroimaging findings. As a result of filtering, the c242G>A variant was determined in the NTNG2 gene. In addition, mild to severe brain parenchymal volume loss and frontal and temporal lobe atrophy were seen in cases 1, 2, and 4 on axial T2-weighted MRI. c. Conclusion: The current study has similar phenotypic and genotypic features and is a very rare report showing NTNG2 mutation in this context. Existing clinical data are important in choosing NTNG2 gene-related neuropsychiatric disorders as a future treatment target.