| Autor: |
Anwar Ramadan Alhamas, Amal Mohammed Alhashem, Ali Alasmari, Eissa Ali Faqeih |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Journal of Biochemical and Clinical Genetics, Vol 5, Iss 2, Pp 48-52 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1658-807X |
| DOI: |
10.24911/JBCGenetics/183-1665949143 |
| Popis: |
Background: NTRK2 is a group of neurological disorders characterized by epilepsy and developmental delay. Neurodevelopmental disorders and obesity are linked to various inherited disorders and are often missed or diagnosed late. Our aim was to review Obesity,hyperphagia,and developmental delay (OBHD) which it overlaps with a wide range of neurodevelopmental disorders with obesity. Also, variable expressivity can mislead the diagnosis, especially if there is a parent with a similar phenotype but a milder presentation. Case presentation: A 8 -year-old girl presented with 6-year history of increase wight. On Neurodevelopmental examination, she found to have a speech delay and autistic features. Parents deny sphincter dysfunction and cognitive delay. Family history was negative for members with a similar presentation. Genetic testing identified a novel mutation in NTKR2 gene. Parents were examined and underwent segregation analysis which came back negative, so it is de novo. Conclusion: Obesity and neurodevelopmental delay are features that are seen in a wide range of inherited disorders, either chromosomal or single-gene disorders. Here we highlight the importance of thorough history, examination, and the application of genetic testing sooner than later to avoid delaying the diagnosis and report a possible novel variant in the NTRK2 gene. Functional studies would be our next step. [JBCGenetics 2022; 5(2.000): 48-52] |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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