NTNG2 Mutation: A candidate gene for a new brain-skin disorder with early neuropsychiatric manifestation? An analysis based on 3000 patients
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...
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| Format: | Article |
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Alanya Alaaddin Keykubat University
2022-03-01
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| Series: | Acta Medica Alanya |
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| Online Access: | https://dergipark.org.tr/tr/download/article-file/2304424 |
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| author | Burak Yuluğ Akif Ayaz |
| author_facet | Burak Yuluğ Akif Ayaz |
| author_sort | Burak Yuluğ |
| collection | DOAJ |
| description | 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 c.242G>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. |
| format | Article |
| id | doaj-art-3080558efc6e45d39366fac180729895 |
| institution | OA Journals |
| issn | 2587-0319 |
| language | English |
| publishDate | 2022-03-01 |
| publisher | Alanya Alaaddin Keykubat University |
| record_format | Article |
| series | Acta Medica Alanya |
| spelling | doaj-art-3080558efc6e45d39366fac1807298952025-08-20T02:19:02ZengAlanya Alaaddin Keykubat UniversityActa Medica Alanya2587-03192022-03-0161939910.30565/medalanya.1086508727NTNG2 Mutation: A candidate gene for a new brain-skin disorder with early neuropsychiatric manifestation? An analysis based on 3000 patientsBurak Yuluğ0https://orcid.org/0000-0002-9704-6173Akif Ayaz1https://orcid.org/0000-0001-6930-7148ALANYA ALAADDİN KEYKUBAT ÜNİVERSİTESİİSTANBUL MEDİPOL ÜNİVERSİTESİ, TIP FAKÜLTESİAim: 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 c.242G>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.https://dergipark.org.tr/tr/download/article-file/2304424netrin-g2; synapse formationphenotypewes analysisschizophrenianeuropsychiatric diseasenetrin-g2sinaps oluşumufenotipwes analizişizofreninöropsikiyatrik hastalık |
| spellingShingle | Burak Yuluğ Akif Ayaz NTNG2 Mutation: A candidate gene for a new brain-skin disorder with early neuropsychiatric manifestation? An analysis based on 3000 patients Acta Medica Alanya netrin-g2; synapse formation phenotype wes analysis schizophrenia neuropsychiatric disease netrin-g2 sinaps oluşumu fenotip wes analizi şizofreni nöropsikiyatrik hastalık |
| title | NTNG2 Mutation: A candidate gene for a new brain-skin disorder with early neuropsychiatric manifestation? An analysis based on 3000 patients |
| title_full | NTNG2 Mutation: A candidate gene for a new brain-skin disorder with early neuropsychiatric manifestation? An analysis based on 3000 patients |
| title_fullStr | NTNG2 Mutation: A candidate gene for a new brain-skin disorder with early neuropsychiatric manifestation? An analysis based on 3000 patients |
| title_full_unstemmed | NTNG2 Mutation: A candidate gene for a new brain-skin disorder with early neuropsychiatric manifestation? An analysis based on 3000 patients |
| title_short | NTNG2 Mutation: A candidate gene for a new brain-skin disorder with early neuropsychiatric manifestation? An analysis based on 3000 patients |
| title_sort | ntng2 mutation a candidate gene for a new brain skin disorder with early neuropsychiatric manifestation an analysis based on 3000 patients |
| topic | netrin-g2; synapse formation phenotype wes analysis schizophrenia neuropsychiatric disease netrin-g2 sinaps oluşumu fenotip wes analizi şizofreni nöropsikiyatrik hastalık |
| url | https://dergipark.org.tr/tr/download/article-file/2304424 |
| work_keys_str_mv | AT burakyulug ntng2mutationacandidategeneforanewbrainskindisorderwithearlyneuropsychiatricmanifestationananalysisbasedon3000patients AT akifayaz ntng2mutationacandidategeneforanewbrainskindisorderwithearlyneuropsychiatricmanifestationananalysisbasedon3000patients |