title: Partial DAZ deletions in a family with five infertile brothers.
abstract: OBJECTIVE
  To study the genetic cause of infertility in a family with five infertile brothers.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Center for reproductive medicine at a university medical center.
  
  
  METHODS
  Five brothers presenting with primary infertility due to severely impaired spermatogenesis; also, their parents and two other paternally related family members.
  
  
  METHODS
  Fluorescence in situ hybridization and sequence family variant analysis was performed in leukocyte DNA to determine the number of deleted in azoospermia (DAZ) genes. Linkage analysis was performed for X chromosome inheritance, and mitochondrial DNA (mtDNA) was screened for mutations.
  
  
  METHODS
  DAZ gene copy number, X chromosome linkage, and mtDNA sequence.
  
  
  RESULTS
  With conventional polymerase chain reaction (PCR) analysis, no deletions of the AZFc region were found, but with fluorescence in situ hybridization and sequence family variant analysis, only two DAZ genes instead of four were detected in all individuals tested. The five brothers did not share an identical X chromosomal locus, and no mutations were found in the mtDNA of the index patient.
  
  
  CONCLUSIONS
  A reduced copy number of the DAZ genes is found in five infertile brothers with severely impaired spermatogenesis, as well as in their normospermic father and in two other fertile paternally related family members. This illustrates that the phenotype associated with a reduced copy number of the DAZ genes can be extremely variable.
authors.affiliation: Center for Reproductive Medicine, Academic Medical Center, The, Amsterdam, Netherlands. j.gianotten@amc.uva.nl
authors.forename: Judith
authors.initials: J
authors.lastname: Gianotten
authors.forename: Mariëtte J V
authors.initials: MJ
authors.lastname: Hoffer
authors.forename: Jan W A
authors.initials: JW
authors.lastname: De Vries
authors.forename: Nico J
authors.initials: NJ
authors.lastname: Leschot
authors.forename: Jan
authors.initials: J
authors.lastname: Gerris
authors.forename: Fulco
authors.initials: F
authors.lastname: van der Veen
mesh_terms: D000328:Adult; D000075364:Deleted in Azoospermia 1 Protein; D017353:Gene Deletion; D008040:Genetic Linkage; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D016601:RNA-Binding Proteins / Q000235:genetics*
chemical_list: C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins