title: A novel mutation (c.2735_2736delTC) in the androgen receptor gene in 46,XY females with complete androgen insensitivity syndrome in an Egyptian family.
abstract: BACKGROUND
  Androgen insensitivity syndrome (AIS) results from resistance of the target tissues to the effect of the androgenic hormones producing a phenotype with varying degrees of feminization ranging from male infertility to completely normal female external genitalia. Androgen receptor (AR) is a transcription factor that interacts with the androgenic steroids that act as ligands activating the AR, and via different cellular mechanisms, the activated AR binds to the DNA of target tissues to induce the desired biological changes. To date, more than 800 different mutations in the AR gene have been identified in patients with AIS and the majority of these mutations are localized in the ligand-binding domain.
  
  
  METHODS
  Here we describe an Egyptian family with 7 affected 46,XY females with complete androgen insensitivity.
  
  
  RESULTS
  Mutational analysis of the AR gene revealed a novel frameshift mutation in exon 8 of the gene c.2735_2736delTC.
  
  
  CONCLUSIONS
  This study extends the number of AR gene mutations identified so far. Further, it confirms that AR gene mutations are the most frequent cause of 46,XY disorder of sexual development, with higher frequency in the complete phenotype.
authors.affiliation: Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
authors.forename: Inas
authors.initials: I
authors.lastname: Mazen
authors.forename: Hala
authors.initials: H
authors.lastname: Soliman
authors.forename: Mona
authors.initials: M
authors.lastname: El-Gammal
authors.forename: Ahmed
authors.initials: A
authors.lastname: Torky
authors.forename: Mona
authors.initials: M
authors.lastname: Mekkawy
authors.forename: Mohamed S
authors.initials: MS
authors.lastname: Abdel-Hamid
authors.forename: Mona
authors.initials: M
authors.lastname: Essawi
mesh_terms: D013734:Androgen-Insensitivity Syndrome / Q000150:complications / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004534:Egypt; D005190:Family; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D011944:Receptors, Androgen / Q000235:genetics*
chemical_list: C410798:AR protein, human; D011944:Receptors, Androgen