title: Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility?
abstract: OBJECTIVE
  To investigate a putative role of TSPYL1 in male idiopathic infertility.
  
  
  METHODS
  Clinical article.
  
  
  METHODS
  University hospital.
  
  
  METHODS
  A total of 104 infertile men were selected with idiopathic nonobstructive azoospermia, cryptozoospermia, oligozoospermia, oligonecrozoospermia, and oligoasthenoteratozoospermia (OAT) syndrome, along with a control group of 106 men with proven paternity.
  
  
  METHODS
  Mutation screening of the coding region and parts of the 5' and 3' untranslated regions of the TSPYL1 gene was performed by polymerase chain reaction and sequencing.
  
  
  METHODS
  Occurrence of TSPYL1 single-nucleotide polymorphisms (SNPs) and mutations.
  
  
  RESULTS
  In these cohorts, eight known TSPYL1 SNPs were identified, none of which was significantly associated with male infertility. Two potentially disease-causing variants were detected in the infertile cohort: one man with azoospermia was found to be heterozygous for the novel TSPYL1 variant c.419C>G (p.Ser140Cys), and the rare substitution c.1098C>A (p.Phe366Leu) was identified in a man with OAT syndrome in the heterozygous state. Additionally, one fertile man was found to be heterozygous for the rare variant c.487G>A (p.Val163Ile). In silico analyses predicted a nonpathogenic effect for all amino acid exchanges, although protein features might be affected by p.Ser140Cys and p.Phe366Leu, respectively.
  
  
  CONCLUSIONS
  Mutations in the TSPYL1 gene do not seem to play a major role in the pathogenesis of idiopathic male infertility, and mutation screening of the TSPYL1 gene can currently not be recommended in routine diagnostics of idiopathic male infertility.
authors.affiliation: Institute for Human Genetics, Hannover Medical School, Hannover, Germany.
authors.forename: Poupak
authors.initials: P
authors.lastname: Javaher
authors.forename: Manfred
authors.initials: M
authors.lastname: Stuhrmann
authors.forename: Christina
authors.initials: C
authors.lastname: Wilke
authors.forename: Eileen
authors.initials: E
authors.lastname: Frenzel
authors.forename: Georgi
authors.initials: G
authors.lastname: Manukjan
authors.forename: Anika
authors.initials: A
authors.lastname: Grosshenig
authors.forename: Frank
authors.initials: F
authors.lastname: Dechend
authors.forename: Eva
authors.initials: E
authors.lastname: Schwaab
authors.forename: Jörg
authors.initials: J
authors.lastname: Schmidtke
authors.forename: Stephanie
authors.initials: S
authors.lastname: Schubert
mesh_terms: D016022:Case-Control Studies; D016009:Chi-Square Distribution; D004252:DNA Mutational Analysis; D005298:Fertility / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D005858:Germany; D006579:Heterozygote; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011237:Predictive Value of Tests; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: D009687:Nuclear Proteins; C510183:TSPYL1 protein, human