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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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
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author Zhu, Yanmei
Chen, Li
He, Jia
Chen, Yan
Gou, Haiyan
Ma, Long
Qu, Youyang
Liu, Yu
Wang, Di
Zhu, Yulan
author_facet Zhu, Yanmei
Chen, Li
He, Jia
Chen, Yan
Gou, Haiyan
Ma, Long
Qu, Youyang
Liu, Yu
Wang, Di
Zhu, Yulan
author_sort Zhu, Yanmei
collection PubMed
description 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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spelling pubmed-78747442021-04-01 Study of Seizure-Manifested Hartnup Disorder Case Induced By Novel Mutations in SLC6A19 Zhu, Yanmei Chen, Li He, Jia Chen, Yan Gou, Haiyan Ma, Long Qu, Youyang Liu, Yu Wang, Di Zhu, Yulan Open Life Sci Special Issue on Agricultural and Biological Sciences - Part II 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. De Gruyter 2018-03-20 /pmc/articles/PMC7874744/ /pubmed/33817063 http://dx.doi.org/10.1515/biol-2018-0003 Text en © 2018 Yanmei Zhu et al., published by De Gruyter http://creativecommons.org/licenses/by-nc-nd/4.0 This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.
spellingShingle Special Issue on Agricultural and Biological Sciences - Part II
Zhu, Yanmei
Chen, Li
He, Jia
Chen, Yan
Gou, Haiyan
Ma, Long
Qu, Youyang
Liu, Yu
Wang, Di
Zhu, Yulan
Study of Seizure-Manifested Hartnup Disorder Case Induced By Novel Mutations in SLC6A19
title Study of Seizure-Manifested Hartnup Disorder Case Induced By Novel Mutations in SLC6A19
title_full Study of Seizure-Manifested Hartnup Disorder Case Induced By Novel Mutations in SLC6A19
title_fullStr Study of Seizure-Manifested Hartnup Disorder Case Induced By Novel Mutations in SLC6A19
title_full_unstemmed Study of Seizure-Manifested Hartnup Disorder Case Induced By Novel Mutations in SLC6A19
title_short Study of Seizure-Manifested Hartnup Disorder Case Induced By Novel Mutations in SLC6A19
title_sort study of seizure-manifested hartnup disorder case induced by novel mutations in slc6a19
topic Special Issue on Agricultural and Biological Sciences - Part II
url 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
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