A novel androgen receptor gene mutation in a Chinese patient with complete androgen insensitivity syndrome

作者：Sun Shunchang^*; Luo Fuwei; Zhou Zhiming; Wu Weiqing

来源：European Journal of Obstetrics & Gynecology and Reproductive Biology, 2010, 153(2): 173-175.

DOI：10.1016/j.ejogrb.2010.08.007

• Androgen receptor
• Gene mutation
• Androgen insensitivity syndrome

Objective: To identify the underlying androgen receptor gene mutation in a Chinese patient with typical symptoms of complete androgen insensitivity syndrome.
Study design: A Chinese female phenotype with 46, XY karyotype was diagnosed because of primary amenorrhea. Mutations were determined by polymerase chain reaction followed by DNA sequencing.
Results: DNA sequencing of the androgen receptor gene showed a G2439T transition causing E442X mutation in exon 1 in the patient with complete androgen insensitivity syndrome. The E442X mutation was a new de novo non-sense mutation in exon 1 of the androgen receptor gene. This non-sense mutation is located in the N-terminal transactivation domain and leads to a predicted truncated protein of 441 amino acids with loss of the end part of the N-terminal transactivation domain, and the DNA-binding and ligand-binding domain.
Conclusion: This E442X non-sense point mutation has not been described previously in cases of androgen insensitivity syndrome, and could lead to the synthesis of a short truncated non-functional androgen receptor probably responsible for the phenotype of complete androgen insensitivity syndrome in the affected individual. Gonadectomy should be planned to eliminate the risk of gonadal malignancy.

• 出版日期2010-12
• 单位南方医科大学