Τίτλος:
Complete androgen insensitivity syndrome is frequently due to premature
stop codons in exon 1 of the androgen receptor gene: an international
collaborative report of 13 new mutations
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Objective: To confirm the clinical diagnosis of complete androgen
insensitivity syndrome (CAIS) by molecular genetic analysis and to
determine the prevalence of exon 1 mutations in the androgen receptor
(AR) transactivation defects of a large series of CAIS patients.
Design: International retrospective study.
Setting: University Hospital of Montpellier, Department of Hormonology.
Patient(s): 105 patients with normal female external genitalia,
bilateral intra-abdominal or inguinal testis, normal breast development,
absent or sparse pubic hair, normal or high endogenous testosterone
production, hypoplastic or absent wolffian structures, and 46,XY
karyotype.
Intervention(s): Sequencing of the AR gene.
Main Outcome Measure(s): Prevalence of AR exon 1 mutations.
Result(s): Over a 10-year period (1997 to 2007), we identified 78 AR
gene mutations in 105 patients with CAIS; 21 of them were located in
exon 1, and 13 of these were new mutations. We report 13 new mutations
in the AR gene. All but one were stop codons, and the last was a
splicing abnormality.
Conclusion(s): The finding that 27% of the mutations in our cohort were
localized in exon 1 versus 15% in previous works justifies the
sequencing of this exon in patients with CAIS. (Fertil Steril(R)
2010;94:472-6. (C) 2010 by American Society for Reproductive Medicine.)
Συγγραφείς:
Philibert, Pascal
Audran, Francoise
Pienkowski, Catherine and
Morange, Isabelle
Kohler, Birgit
Flori, Elisabeth
Heinrich,
Claudine
Dacou-Voutetakis, Catherine
Joseph, Marie-Genevieve and
Guedj, Anne-Marie
Journel, Hubert
Hecart-Bruna, Annie-Claude and
Khotchali, Ines
Ten, Svetlana
Bouchard, Philippe
Paris,
Francoise
Sultan, Charles
Περιοδικό:
International Journal of Fertility and Sterility
Εκδότης:
EXCERPTA MEDICA INC-ELSEVIER SCIENCE INC
Λέξεις-κλειδιά:
Androgen receptor; complete androgen insensitivity syndrome; exon 1
mutation; premature stop codon
DOI:
10.1016/j.fertnstert.2009.03.057
