We report the case of a girl with Asparagine synthetase deficiency, an autosomal recessive metabolic disorder characterized by severe microcephaly and epileptic encephalopathy secondary to pathogenic variants in the ASNS gene. Genetic explorations found a deletion of ASNS and a missense variant on the other allele detected respectively by array comparative genomic hybridization (CGH) and Sanger sequencing. Amino acid analysis provided a biochemical confirmation. Previous cases of Asparagine synthetase deficiency were diagnosed though exome Sequencing. The combination of several techniques (array CGH, sequencing, and biochemical analysis) improves the opportunity to provide accurate diagnosis.

我们报告了一个女孩，天冬酰胺合成酶缺乏症的病例，该病是一种常染色体隐性遗传代谢疾病，其特征是继发于ASNS基因的致病变异的严重小头畸形和癫痫性脑病。遗传探索发现分别通过阵列比较基因组杂交（CGH）和Sanger测序检测到的其他等位基因上的ASNS缺失和错义变体。氨基酸分析提供了生化确认。通过外显子组测序诊断出以前的天冬酰胺合成酶缺乏症病例。几种技术（阵列CGH，测序和生化分析）的组合提高了提供准确诊断的机会。