由……新突变引发的癫痫发作型哈氏病病例研究
Study of Seizure-Manifested Hartnup Disorder Case Induced By Novel Mutations in .
作者信息
Zhu Yanmei, Chen Li, He Jia, Chen Yan, Gou Haiyan, Ma Long, Qu Youyang, Liu Yu, Wang Di, Zhu Yulan
机构信息
Department of Neurology, Second Affiliated Hospital of Harbin Medical University, Harbin, China.
Second Department of Internal Medicine, Second Hospital of Heilongjiang Province, Harbin, China.
出版信息
Open Life Sci. 2018 Mar 20;13:22-27. doi: 10.1515/biol-2018-0003. eCollection 2018 Jan.
AIM
The aim of the study is to investigate a variation in the gene 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 gene were amplified and sequenced.
RESULTS
We found c.47C>T and c.1522G>A mutations in the gene 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 gene are revealed in the female patient with Hartnup disorder, exhibiting no typical dermatologic problems, but having dramatic neurological symptoms.
目的
本研究旨在调查一名仅表现为癫痫发作的患有哈特纳普病的女性患者的该基因变异情况。
方法
对从患者及其父母采集的DNA样本进行分析，扩增并测序该基因的12个外显子。
结果
我们在该患者的基因中发现了c.47C>T和c.1522G>A突变，这是从其父母遗传而来的错义突变。c.47C>T突变来自她的父亲，c.1522G>A突变来自她的母亲。父母均为杂合健康携带者。
结论
在这名无典型皮肤问题但有严重神经症状的患有哈特纳普病的女性患者中发现了该基因的两个新突变。
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