一例单纯性高甲硫氨酸血症患儿的MAT1A基因突变分析

Analysis of MATIA gene mutations in a child affected with simple hypermethioninemia

目的对1例串联质谱技术新生儿筛查发现的可疑单纯性高甲硫氨酸血症患儿进行致病基因突变检测，为临床诊断和遗传咨询提供依据。方法归纳整理1例单纯性高甲硫氨酸血症患儿的临床资料，提取其基因组DNA，应用半导体测序技术进行高通量测序，对可疑突变用Sanger测序进行验证。结果患儿除血甲硫氨酸升高外无其他临床症状。IonTorrent半导体测序结果显示患儿携带MAT1A基因C．345delA和C．529C〉T突变，二者均为未报道过的新突变，患儿父亲为C．345delA突变携带者，母亲为C．529C〉T突变携带者。结论MAT1A基因C．345delA和C．529C〉T突变可能为这例单纯型高甲硫氨酸血症患儿的致病原因，新一代半导体测序技术是遗传代谢病诊断的重要手段。

Objective To detect potential mutations of MAT1A gene in a child suspected with simple hypermethioninemia by MS/MS neonatal screening. Methods Clinical data of the child was collected. Genomic DNA was extracted by a standard method and subjected to targeted sequencing using an Ion AmpliseqTM Inherited Disease Panel. Detected mutations were verified by Sanger sequencing. Results The child showed no clinical features except evaluated methionine. A novel compound mutation of the MATIA gene, i. e. , e. 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. Conclusion The compound mutation c. 345delA and c. 529C〉T of the MATIA gene probably underlie the disease in the child. The semi-conductor sequencing has provided an important means for the diagnosis of hereditary diseases.