AI Article Synopsis
- The study aims to explore a gene variation in a female patient with Hartnup disorder who only experienced seizures.
- Researchers analyzed DNA samples from the patient and her parents, identifying mutations in the gene that are missense and inherited.
- The findings reveal two new mutations linked to the patient's neurological symptoms, although she does not show the usual skin issues typically associated with the disorder.
Article Abstract
Aim: The aim of the study is to investigate a variation in the gene in a female patient with Hartnup disorder manifested only by seizure.
Methods: DNA samples collected from the patient and her parents were analyzed and twelve exons of the gene were amplified and sequenced.
Results: We found c.47C>T and c.1522G>A mutations in the gene belonging to the patient, which are missense mutations inherited from her parents. The c.47C>T mutation is from her father and c.1522G>A is inherited from her mother. The parents are both heterozygous healthy carriers.
Conclusion: Two novel mutations of the gene are revealed in the female patient with Hartnup disorder, exhibiting no typical dermatologic problems, but having dramatic neurological symptoms.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7874744 | PMC |
| http://dx.doi.org/10.1515/biol-2018-0003 | DOI Listing |
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