European Journal of Obstetrics & Gynecology and Reproductive Biology
Volume 153, Issue 2 , Pages 173-175 , December 2010

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

  • Sun Shunchang

      Affiliations

    • Department of Clinical Laboratory, Shenzhen Baoan Hospital, Southern Medical University, 118 Longjing Er Road, Baoan, Shenzhen, Guangdong 518101, China
    • Corresponding Author InformationCorresponding author. Fax: +86 755 27751033.
    • ,
  • Luo Fuwei

      Affiliations

    • Center of Prenatal Diagnosis, Shenzhen Maternal and Child Hospital, Southern Medical University, Shenzhen, Guangdong, China
    • ,
  • Zhou Zhiming

      Affiliations

    • Department of Clinical Laboratory, Shenzhen Baoan Hospital, Southern Medical University, 118 Longjing Er Road, Baoan, Shenzhen, Guangdong 518101, China
    • ,
  • Wu Weiqing

      Affiliations

    • Center of Prenatal Diagnosis, Shenzhen Maternal and Child Hospital, Southern Medical University, Shenzhen, Guangdong, China

Received 9 May 2010 ,Revised 11 July 2010 ,Accepted 10 August 2010.

References 

  1. Chakraborty A, Sreenivasulu K, Raman R. Involvement of androgen receptor gene in male gonad differentiation in Indian garden lizard, Calotes versicolor. Mol Cell Endocrinol. 2009;303:100–106
  2. Skjærpe PA, Giwercman YL, Giwercman A, Svartberg J. Androgen receptor gene polymorphism and sex hormones in elderly men: the Tromsø study. Asian J Androl. 2009;11:222–228
  3. Turek-Plewa J, Eckersdorf-Mastalerz A, Kaluzewski B, Helszer Z, Trzeciak WH. A mutation c.C2812T in the androgen receptor gene resulting in Pro817Leu substitution may affect dimerization of the androgen receptor and result in androgen insensitivity syndrome. Fertil Steril. 2006;85:1822.e1–1822.e4
  4. Raicu F, Giuliani R, Gatta V, et al. Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome. Asian J Androl. 2008;10:687–691
  5. Decaestecker K, Philibert P, De Baere E, et al. A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family. Fertil Steril. 2008;89:1260.e3–1260.e7
  6. Galani A, Sofocleous C, Karahaliou F, Papathanasiou A, Kitsiou-Tzeli S, Kalpini-Mavrou A. Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene. Fertil Steril. 2008;90:e1–4
  7. Rajender S, Singh L, Thangaraj K. L859F mutation in androgen receptor gene results in complete loss of androgen binding to the receptor. J Androl. 2007;28:772–776
  8. Jarzabek K, Philibert P, Koda M, et al. Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within the tumor. Gynecol Endocrinol. 2007;23:499–504
  9. Radpour R, Falah M, Aslani A, Zhong XY, Saleki A. Identification of a critical novel mutation in the exon 1 of androgen receptor gene in two brothers with complete androgen insensitivity syndrome. J Androl. 2009;30:230–232
  10. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215
  11. Jääskeläinen J, Mongan NP, Harland S, Hughes IA. Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome. Hum Mutat. 2006;27:291
  12. Radpour R, Zhong X, Tavasoly A, Solati S, Holzgreve W. Retraction. Association of long polyglutamine tracts in exon 1 of the androgen receptor gene with idiopathic male infertility. J Androl. 2008;29:368
  13. Rajender S, Gupta NJ, Chakravarty B, Singh L, Thangaraj K. Androgen insensitivity syndrome: do trinucleotide repeats in androgen receptor gene have any role?. Asian J Androl. 2008;10:616–624
  14. Tadokoro R, Bunch T, Schwabe JW, Hughes IA, Murphy JC. Comparison of the molecular consequences of different mutations at residue 754 and 690 of the androgen receptor (AR) and androgen insensitivity syndrome (AIS) phenotype. Clin Endocrinol (Oxf). 2009;71:253–260
  15. Cheikhelard A, Morel Y, Thibaud E, et al. Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome. J Urol. 2008;180:1496–1501
  16. Turek-Plewa J, Jerzy S, Wieslaw HT. Novel human pathological mutations. Gene symbol: AR. Disease: androgen insensitivity syndrome. Hum Genet. 2009;125:341
  17. Holterhus PM, Werner R, Hoppe U, et al. Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations. J Mol Med. 2005;83:1005–1013

PII: S0301-2115(10)00413-6

doi: 10.1016/j.ejogrb.2010.08.007

European Journal of Obstetrics & Gynecology and Reproductive Biology
Volume 153, Issue 2 , Pages 173-175 , December 2010

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