Rao Jiao, Zeng Guohong, Wang Shushui, Zhang Zhiwei, Li Yufen, Zhang Cheng
Department of Pediatrics, Guangdong General Hospital (Guangdong Academy of Medical Sciences), Guangdong Cardiovascular Institute, Guangzhou 510080, China.
Department of Pediatrics, Guangdong General Hospital (Guangdong Academy of Medical Sciences), Guangdong Cardiovascular Institute, Guangzhou 510080, China. Email:
Zhonghua Er Ke Za Zhi. 2014 Jul;52(7):544-7.
To investigate the mutation and background of SLC22A5 in 6 patients with primary carnitine deficiency (PCD) who only presented as cardiomyopathy.
Genomic DNA were abstracted from the blood of the patients and their parents. Using high-throughput sequencing to determine the mutation site.Using Sanger method to confirm the mutated alleles in PCD patients and detect the corresponding sequences in their patients. Using SIFT and PolyPhen to predict the function of protein for detected missense mutations.
Three different mutations were identified, including 2 nonsense mutations (R254X and R289X), 1 missense mutation (C113Y), R254X was the most frequently seen mutation. Four patients had compound heterozygous mutations and 2 patients had homozygous mutations. Their parents were found to have heterozygous mutations in corresponding alleles.
R254X, R289X and C113Y might be associated with primary carnitine deficiency.
研究6例仅表现为心肌病的原发性肉碱缺乏症（PCD）患者中SLC22A5的突变情况及背景。
从患者及其父母的血液中提取基因组DNA。采用高通量测序确定突变位点。采用桑格法确认PCD患者中的突变等位基因并检测其父母的相应序列。使用SIFT和PolyPhen预测检测到的错义突变的蛋白质功能。
鉴定出3种不同的突变，包括2种无义突变（R254X和R289X）、1种错义突变（C113Y），R254X是最常见的突变。4例患者为复合杂合突变，2例患者为纯合突变。发现他们的父母在相应等位基因中有杂合突变。
R254X、R289X和C113Y可能与原发性肉碱缺乏症有关。
