Study of Seizure-Manifested Hartnup Disorder Case Induced by Novel Mutations in SLC6A19

作者：Yanmei Zhu, Yanmei Zhu, Li Chen, Jia He, Yan Chen, Haiyan Gou, Long Ma, Youyang Qu, Yu Liu, Di Wang, Yulan Zhu, Yulan Zhu · 发表于：Open Life Sciences · 年份：2018 · DOI：10.1515/biol-2018-0003 · 被引用次数：5 · 研究领域：Amino Acid Enzymes and Metabolism、Genetic Syndromes and Imprinting、Bipolar Disorder and Treatment

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.