title: Identification of a novel mutation in the SRY gene in a 46, XY female patient.
abstract: BACKGROUND
  The SRY gene encodes for a testis-specific transcription factor (TDF, testis determining factor) that plays a key role in sexual differentiation and development in males. Several SRY mutations have been described in patients with gonadal dysgenesis, accounting for 10-15% of the sex reversal cases. The reported mutations are both point mutations and deletions, mostly involving the high mobility group (HMG) box domain of SRY, which is a conserved region through the evolution, suggesting that SRY function strictly depends on the HMG box.
  
  
  METHODS
  Here we describe the clinical, endocrinological and molecular data of a patient with complete 46, XY gonadal dysgenesis caused by SRY mutation located within the conserved HMG box. Using DNA direct sequencing of the SRY coding region, we identified a single nucleotide insertion at codon 89 with subsequent frameshift of the reading frame sequence, which results in a truncated protein as consequence of an introduction of a stop codon at the position 103.
  
  
  CONCLUSIONS
  A novel SRY mutation has been described in a female with a gonadal dysgenesis associated with a 46, XY karyotype. The described case is of importance for genetic counseling.
authors: Dipartimento di Biopatologia, Università di Roma Tor Vergata, Reparto di Genetica Medica, Viale Oxford 81, 00133 Roma, Italy. l.b.salehi@mclink.it
authors: L Baghernajad
authors: LB
authors: Salehi
authors: O
authors: O
authors: Scarciolla
authors: G Frajese
authors: GF
authors: Vanni
authors: A M
authors: AM
authors: Nardone
authors: G
authors: G
authors: Frajese
authors: G
authors: G
authors: Novelli
authors: L
authors: L
authors: Stuppia