title: Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism.
abstract: In a French child with complete androgen insensitivity syndrome and negative receptor-binding, no gross deletion has been found. Using single-strand conformation polymorphism assay, a useful screening method for rapid detection of DNA sequence alterations, and direct DNA sequencing, a G-T nucleotide substitution in exon 5 of the androgen receptor gene at nucleotide 2590 was found. This changed codon 743, glycine to valine, in the hormone-binding domain and created a new recognition sequence for the restriction endonuclease Asp HI. Amplification of exon 5 by polymerase chain reaction followed by digestion with Asp HI enabled easy recognition of the described mutation. Since the mother's exon 5 was undigested, we suspected the de novo nature of this nucleotide substitution. This was confirmed by direct sequencing of the mother's DNA which only showed the canonical sequence. To our knowledge, there has been no previous report of a de novo mutation described within the androgen receptor gene in patients with androgen insensitivity syndrome.
authors.affiliation: Unité de Biochimie Endocrinienne du Développment et de la Reproduction, Hôpital Lapeyronie, France.
authors.forename: J M
authors.initials: JM
authors.lastname: Lobaccaro
authors.forename: S
authors.initials: S
authors.lastname: Lumbroso
authors.forename: P
authors.initials: P
authors.lastname: Berta
authors.forename: J L
authors.initials: JL
authors.lastname: Chaussain
authors.forename: C
authors.initials: C
authors.lastname: Sultan
mesh_terms: D000595:Amino Acid Sequence; D000728:Androgens / Q000494:pharmacology*; D001483:Base Sequence; D003062:Codon; D004247:DNA / Q000737:chemistry* / Q000235:genetics; D015252:Deoxyribonucleases, Type II Site-Specific; D012734:Disorders of Sex Development / Q000235:genetics*; D004361:Drug Tolerance; D005091:Exons; D005602:France; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009690:Nucleic Acid Conformation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011944:Receptors, Androgen / Q000737:chemistry / Q000235:genetics*; D013577:Syndrome
chemical_list: D000728:Androgens; D003062:Codon; D011944:Receptors, Androgen; D004247:DNA; D015252:Deoxyribonucleases, Type II Site-Specific; C061927:endodeoxyribonuclease HgiAI