NTNG2 Mutation: A Candidate Gene for a New Brain-Skin Disorder with Early Neuropsychiatric Manifestation? An Analysis Based on 3000 Patients
Özet
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.
Kaynak
Acta Medica AlanyaCilt
6Sayı
1Bağlantı
https://dergipark.org.tr/tr/download/article-file/2304424https://hdl.handle.net/20.500.12868/1755