A novel DAX-1 mutation in two male siblings presenting with precocious puberty and late-onset hypogonadotropic hypogonadism

作者：Liu, Yanxia^*; Yuan, Jinlei; Zhang, Huijuan; Jiang, Yanyan; Qin, Guijun

来源：Journal of Pediatric Endocrinology & Metabolism, 2017, 30(3): 349-353.

DOI：10.1515/jpem-2016-0228

• DAX-1 gene
• hypogonadotropic hypogonadism
• precocious puberty
• X-linked adrenal hypoplasia congenita

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.

• 出版日期2017-3
• 单位郑州大学