• PMID: 10948474
• Gene Name: DAZ1
• Condition: Infertility
• Association: The results showed two weak signals for DAZ gene area indicating that the breakpoint was located at the DAZ gene level
• Mutation: Y chromosome pericentric inversion in the DAZ gene area
• Population size: 1
• Population details: 1 oligozoospermia
• Age: 34
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Oligozoopsermia

Breakpoint of a Y chromosome pericentric inversion in the DAZ gene area. A case report

Causio F, Canale D, Schonauer LM, Fischetto R, Leonetti T, Archidiacono N.

BACKGROUND: The presence of a spermatogenesis locus (gene or gene complex) in the euchromatic region of the long arm of the Y chromosome (Yq11), defined as azoospermia factor on the basis of gross structural rearrangement, was detected. The gene family responsible for different spermatogenetic defects is "deleted in azoospermia" (DAZ). CASE: A 34-year-old man had oligozoospermia, and a cytogenetic analysis carried out on peripheral lymphocytes with G banding revealed a 46,X, inv(Y)(p11q11)karyotype. The relation between the chromosomal breakpoint and the DAZ gene was more precisely defined by a fluorescent in situ hybridization technique. We revealed two signals for the DAZ gene, weaker than normal, one on the short arm and the other on the long arm of the Y chromosome, indicating that the breakpoint was located at the DAZ gene level. CONCLUSION: This is the first report documenting a chromosomal pericentric inversion with disruption in the DAZ gene area. We hope to obtain information on whether the disruption affects a functional zone of the gene and correlates with oligospermia at the chromosomal level. FAU - Causio, F AU - Causio F AD - Department of Gynecology and Obstetrics, University of Bari, Italy. FAU - Canale, D AU - Canale D FAU - Schonauer, L M AU - Schonauer LM FAU - Fischetto, R AU - Fischetto R FAU - Leonetti, T AU - Leonetti T