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

Yanmei Zhu; Li Chen; Jia He; Yan Chen; Haiyan Gou; Long Ma; Youyang Qu; Yu Liu; Di Wang; Yulan Zhu

doi:10.1515/biol-2018-0003

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

Open Life Sci. 2018 Mar 20:13:22-27. doi: 10.1515/biol-2018-0003. eCollection 2018 Jan.

Authors

Yanmei Zhu¹, Li Chen¹, Jia He¹, Yan Chen¹, Haiyan Gou¹, Long Ma², Youyang Qu¹, Yu Liu¹, Di Wang¹, Yulan Zhu¹

Affiliations

¹ Department of Neurology, Second Affiliated Hospital of Harbin Medical University, Harbin, China.
² Second Department of Internal Medicine, Second Hospital of Heilongjiang Province, Harbin, China.

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.

Keywords: Hartnup disease; SLC6A19 gene mutations; seizure.