| Autor: |
Yanxia Liu, Jinlei Yuan, Huijuan Zhang, Yanyan Jiang, Guijun Qin |
| Zdroj: |
Journal of Pediatric Endocrinology & Metabolism; Mar2017, Vol. 30 Issue 3, p349-353, 5p, 2 Color Photographs, 2 Charts, 1 Graph |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
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