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

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:...

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Detalles Bibliográficos
Autores principales: Zhu, Yanmei, Chen, Li, He, Jia, Chen, Yan, Gou, Haiyan, Ma, Long, Qu, Youyang, Liu, Yu, Wang, Di, Zhu, Yulan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2018
Materias:
Special Issue on Agricultural and Biological Sciences - Part II
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7874744/
https://www.ncbi.nlm.nih.gov/pubmed/33817063
http://dx.doi.org/10.1515/biol-2018-0003
Descripción
Sumario: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.

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