Liu Yanxia, Yuan Jinlei, Zhang Huijuan, Jiang Yanyan, Qin Guijun
J Pediatr Endocrinol Metab. 2017 Mar 1;30(3):349-353. doi: 10.1515/jpem-2016-0228.
Background The DAX-1 gene is associated with X-linked adrenal hypoplasia congenita (AHC). Our objective was to compare the DAX-1 gene sequence of two male siblings exhibiting different clinical manifestations of AHC. Methods Clinical features were analyzed and laboratory data were collected from both siblings. Genomic DNA was extracted from the peripheral blood leukocytes of the siblings and their parents and the DAX-1 gene exons and intron-flanking regions were amplified by the polymerase chain reaction. The DAX-1 gene sequences were compared following sequencing. Results AHC was diagnosed based on a comprehensive review of the clinical presentation and laboratory tests. Gene analysis revealed a nonsense mutation in DAX-1 gene exon 1 (c.192C>G), resulting in a premature termination codon and a truncated 64-amino acid protein product (p.Tyr64X). Conclusions Our report provides evidence that defined point mutations in the DAX-1 gene do not necessarily translate into the same clinical manifestations of AHC, even in patients with the same pedigree.
DAX-1基因与X连锁先天性肾上腺发育不全（AHC）相关。我们的目的是比较两名表现出不同AHC临床表现的男性同胞的DAX-1基因序列。方法：分析两名同胞的临床特征并收集实验室数据。从同胞及其父母的外周血白细胞中提取基因组DNA，通过聚合酶链反应扩增DAX-1基因外显子和内含子侧翼区域。测序后比较DAX-1基因序列。结果：根据临床表现和实验室检查综合诊断为AHC。基因分析显示DAX-1基因外显子1存在无义突变（c.192C>G），导致提前终止密码子和截短的64个氨基酸的蛋白质产物（p.Tyr64X）。结论：我们的报告提供了证据，表明即使在同一家系的患者中，DAX-1基因中确定的点突变不一定会转化为相同的AHC临床表现。
