NTNG2 Mutation: A Candidate Gene for a New Brain-Skin Disorder with Early Neuropsychiatric Manifestation? An Analysis Based on 3000 Patients
| dc.contributor.author | Ayaz, Akif | |
| dc.contributor.author | Yuluğ, Burak | |
| dc.date.accessioned | 2022-10-03T07:44:33Z | |
| dc.date.available | 2022-10-03T07:44:33Z | |
| dc.date.issued | 2022 | |
| dc.department | ALKÜ, Fakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü | |
| dc.description.abstract | 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. 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. | |
| dc.identifier.doi | 10.30565/medalanya.1086508 | |
| dc.identifier.endpage | 99 | en_US |
| dc.identifier.issue | 1 | en_US |
| dc.identifier.startpage | 93 | en_US |
| dc.identifier.uri | https://dergipark.org.tr/tr/download/article-file/2304424 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12868/1755 | |
| dc.identifier.volume | 6 | en_US |
| dc.language.iso | en | |
| dc.relation.ispartof | Acta Medica Alanya | |
| dc.relation.publicationcategory | Makale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı | |
| dc.rights | info:eu-repo/semantics/openAccess | |
| dc.subject | Netrin-g2 | |
| dc.subject | Synapse formation | |
| dc.subject | Phenotype | |
| dc.subject | WES analysis | |
| dc.subject | Schizophrenia | |
| dc.subject | Neuropsychiatric Disease | |
| dc.title | NTNG2 Mutation: A Candidate Gene for a New Brain-Skin Disorder with Early Neuropsychiatric Manifestation? An Analysis Based on 3000 Patients | |
| dc.type | Article |
