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: 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.
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Erschienen in
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Study of Seizure-Manifested Hartnup Disorder Case Induced by Novel Mutations in SLC6A19 ; volume:13 ; number:1 ; year:2018 ; pages:22-27 ; extent:6
Open life sciences ; 13, Heft 1 (2018), 22-27 (gesamt 6)
- Urheber
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Zhu, Yanmei
Chen, Li
He, Jia
Chen, Yan
Gou, Haiyan
Ma, Long
Qu, Youyang
Liu, Yu
Wang, Di
Zhu, Yulan
- DOI
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10.1515/biol-2018-0003
- URN
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urn:nbn:de:101:1-2409201656514.754834047585
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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15.08.2025, 07:27 MESZ
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Beteiligte
- Zhu, Yanmei
- Chen, Li
- He, Jia
- Chen, Yan
- Gou, Haiyan
- Ma, Long
- Qu, Youyang
- Liu, Yu
- Wang, Di
- Zhu, Yulan
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