Sun Yun, Ma Dingyuan, Wang Yanyun, Yang Bin, Jiang Tao
Center of Genetic Medicine, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Jiangsu, Nanjing 210004, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):98-101. doi: 10.3760/cma.j.issn.1003-9406.2017.01.023.
To detect potential mutations of MAT1A gene in a child suspected with simple hypermethioninemia by MS/MS neonatal screening.
Clinical data of the child was collected. Genomic DNA was extracted by a standard method and subjected to targeted sequencing using an Ion Ampliseq Inherited Disease Panel. Detected mutations were verified by Sanger sequencing.
The child showed no clinical features except evaluated methionine. A novel compound mutation of the MAT1A gene, i.e., c.345delA and c.529C>T, was identified in the child. His father and mother were found to be heterozygous for the c.345delA mutation and c.529C>T mutation, respectively.
The compound mutation c.345delA and c.529C>T of the MAT1A gene probably underlie the disease in the child. The semi-conductor sequencing has provided an important means for the diagnosis of hereditary diseases.
通过串联质谱新生儿筛查检测疑似单纯高甲硫氨酸血症患儿的MAT1A基因潜在突变。
收集患儿的临床资料。采用标准方法提取基因组DNA，并使用Ion Ampliseq遗传性疾病检测板进行靶向测序。通过桑格测序验证检测到的突变。
除甲硫氨酸评估外，患儿无其他临床特征。在该患儿中鉴定出MAT1A基因的一种新型复合突变，即c.345delA和c.529C>T。发现其父亲和母亲分别为c.345delA突变和c.529C>T突变的杂合子。
MAT1A基因的复合突变c.345delA和c.529C>T可能是该患儿疾病的病因。半导体测序为遗传性疾病的诊断提供了重要手段。
