Abstract
AIM: The aim of the study is to investigate a variation in the gene SLC6A19 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 SLC6A19 gene were amplified and sequenced. RESULTS: We found c.47C>T and c.1522G>A mutations in the gene SLC6A19 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 SLC6A19 gene are revealed in the female patient with Hartnup disorder, exhibiting no typical dermatologic problems, but having dramatic neurological symptoms.