• PMID: 15292361
• Gene Name: SOX3
• Condition: Male infertility, idiopathic oligo-azoospermia
• Association: The 609 T-->C substitution was in the HMG box, and the two other substitutions were identified within the polyalanine repeat regions. Three patients had 609 T-->C, 2 patients had 609 T-->C and 732 A-->C, and one had 978 G-->A. These data indicate that mut
• Mutation: 609 T-->C, 732 A-->C, and 978 G-->A
• Population size: 56
• Population details: 56 infertile men with idiopathic oligo-azoospermia
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility, idiopathic oligo-azoospermia

X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility

Raverot G, Lejeune H, Kotlar T, Pugeat M, Jameson JL.

The X-linked sex-determining region Y box 3 (SOX3) gene is expressed in the developing gonads and brain. Sox3-null mice developed according to genetic sex, but the hemizygous null males were hypogonadal, with extensive Sertoli cell vacuo-lization, loss of germ cells, and reduced sperm count. We hypothesized that SOX3 mutations might occur in a subset of infertility patients. Genomic DNA samples from 56 infertile men with idiopathic oligo-azoospermia were screened for SOX3 mutations. Three nucleotide substitutions (609 T-->C, 732 A-->C, and 978 G-->A) were identified, none of which altered the amino acid sequence, suggesting that they are polymorphic variants. The 609 T-->C substitution was in the HMG box, and the two other substitutions were identified within the polyalanine repeat regions. Three patients had 609 T-->C, 2 patients had 609 T-->C and 732 A-->C, and one had 978 G-->A. These data indicate that mutations in the SOX3 gene are not a common cause of male infertility. FAU - Raverot, Gerald AU - Raverot G AD - Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Feinberg School of Medicine, Galter Pavilion, Suite 3-150, 251 East Huron Street, Chicago, Illinois 60611-2908, USA. FAU - Lejeune, Herve AU - Lejeune H FAU - Kotlar, Tom AU - Kotlar T FAU - Pugeat, Michel AU - Pugeat M