title: A novel c.C2754 > T transition in the androgen receptor gene introduces the premature termination codon Q798X and results in a truncated form of the receptor.
abstract: A genetic analysis of a female with a 46,XY genotype and typical symptoms of the complete androgen insensitivity syndrome (CAIS) was conducted. The patient was diagnosed with an abdominal tumor due to the presence of a Sertoli cell adenoma in both gonads. Multiple temperature single-stranded conformational polymorphism (MSSCP) and sequence analyses of the androgen receptor gene revealed a c.C2754 > T mutation in exon 6. This mutation, which has not been previously reported, alters a Gln codon to a termination codon (Q798X). This results in the interruption of the amino acid sequence of the androgen receptor within the ligand-binding domain between helices VII and VIII. The truncated form of the receptor is devoid of 123 amino acids at the carboxyl end, a major part of the ligand-binding domain, and the AT2 sequence responsible for the activation of the transcription. It was concluded that the novel c.C2754 > T transition rendered the androgen receptor incapable of both ligand binding and activating the transcription, and was the cause of CAIS in the patient.
authors.affiliation: Department of Biochemistry and Molecular Biology, University of Medical Sciences, Poznan, Poland.
authors.forename: M
authors.initials: M
authors.lastname: Ignacak
authors.forename: J
authors.initials: J
authors.lastname: Turek-Plewa
authors.forename: J
authors.initials: J
authors.lastname: Limon
authors.forename: W H
authors.initials: WH
authors.lastname: Trzeciak
mesh_terms: D000236:Adenoma / Q000235:genetics; D000328:Adult; D001483:Base Sequence; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D006801:Humans; D010051:Ovarian Neoplasms / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational; D011944:Receptors, Androgen / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D012707:Sertoli Cell Tumor / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; D011944:Receptors, Androgen