• PMID: 20542509
• Gene Name: DAZ1
• Condition: Infertility
• Association: The study concludes that PRY is not indispensable to complete spermatogenesis; and with two RBMY1 and two DAZ copies, complete spermatogenesis can be conserved
• Mutation: Deletion of sY142, sY143, sY1197, sY1192, and G34984(PRY)
• Population size: 1
• Population details: 1 (oligoasthenospermia with partial spermatogenic failure)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: RBMY1, PRY
• Other associated phenotypes: Oligoasthenospermia

Transmissible microdeletion of the Y-chromosome encompassing two DAZ copies, four RBMY1 copies, and both PRY copies

Plotton I, Ducros C, Pugeat M, Morel Y, Lejeune H.

OBJECTIVE: To study a transmissible partial AZFb and -c microdeletion. DESIGN: Case report. SETTING: Service of Reproductive Medicine, Molecular Biology, CHU Lyon, France. PATIENT(S): A case of oligoasthenospermia with partial spermatogenic failure. Screening for Yq microdeletions revealed the absence of sY143, suggesting an AZFb microdeletion. INTERVENTION(S): Sequence-tagged site mapping indicated that the deletion encompassed a portion of the AZFb and -c region. Genomic DNA from the patient's father gave the same pattern. During the course of these investigations, a pregnancy occurred. On the 46,XY amniocyte and cord blood DNA, the same microdeletion was found. MAIN OUTCOME MEASURE(S): Study of the fine structure of the Y-chromosome and the gene copy number. RESULT(S): The three males of this family have a rearrangement including a deletion encompassing r3 and r4, the palindrome P3, and its boundary regions: u3 and u1 in its distal part. This induced a reduction in DAZ and RBMY1 copy number and complete loss of PRY. CONCLUSION(S): PRY is not indispensable to complete spermatogenesis; and with two RBMY1 and two DAZ copies, complete spermatogenesis can be conserved. CI - Copyright © 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. FAU - Plotton, Ingrid AU - Plotton I AD - Service d'Endocrinologie Moléculaire et Maladies Rares, Groupement Hospitalier Est, CHU de Lyon, Lyon, France. ingrid.plotton@chu-lyon.fr FAU - Ducros, Claude AU - Ducros C FAU - Pugeat, Michel AU - Pugeat M FAU - Morel, Yves AU - Morel Y