title: A new mutation identified in SPATA16 in two globozoospermic patients.
abstract: OBJECTIVE
  The aim of this study is to identify potential genes involved in human globozoopsermia.
  
  
  METHODS
  Nineteen globozoospermic patients (previously screened for DPY19L2 mutations with no causative mutation) were recruited in this study and screened for mutations in genes implicated in human globozoospermia SPATA16 and PICK1. Using the candidate gene approach and the determination of Spata16 partners by Glutathione S-transferase (GST) pull-down four genes were also selected and screened for mutations.
  
  
  RESULTS
  We identified a novel mutation of SPATA16: deletion of 22.6 Kb encompassing the first coding exon in two unrelated Tunisian patients who presented the same deletion breakpoints. The two patients shared the same haplotype, suggesting a possible ancestral founder effect for this new deletion. Four genes were selected using the candidate gene approach and the GST pull-down (GOPC, PICK1, AGFG1 and IRGC) and were screened for mutation, but no variation was identified.
  
  
  CONCLUSIONS
  The present study confirms the pathogenicity of the SPATA16 mutations. The fact that no variation was detected in the coding sequence of AFGF1, GOPC, PICK1 and IRGC does not mean that they are not involved in human globozoospermia. A larger globozoospermic cohort must be studied in order to accelerate the process of identifying new genes involved in such phenotypes. Until sufficient numbers of patients have been screened, AFGF1, GOPC, PICK1 and IRGC should still be considered as candidate genes.
authors.affiliation: Département Génomique Fonctionnelle et Cancer, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Institut National de Santé et de Recherche Médicale (INSERM) U964/Centre National de Recherche Scientifique (CNRS) UMR 7104/Université de Strasbourg, 67404, Illkirch, France. elias.elinati@crick.ac.uk.|The Francis Crick Institute, Mill Hill Laboratory, The Ridgeway NW7 1AA, London, UK. elias.elinati@crick.ac.uk.
authors.forename: Elias
authors.initials: E
authors.lastname: ElInati
authors.affiliation: Département Génomique Fonctionnelle et Cancer, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Institut National de Santé et de Recherche Médicale (INSERM) U964/Centre National de Recherche Scientifique (CNRS) UMR 7104/Université de Strasbourg, 67404, Illkirch, France.
authors.forename: Camille
authors.initials: C
authors.lastname: Fossard
authors.affiliation: Département Génomique Fonctionnelle et Cancer, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Institut National de Santé et de Recherche Médicale (INSERM) U964/Centre National de Recherche Scientifique (CNRS) UMR 7104/Université de Strasbourg, 67404, Illkirch, France.|Centre Hospitalier Universitaire de Strasbourg, 67000, Strasbourg, France.
authors.forename: Ozlem
authors.initials: O
authors.lastname: Okutman
authors.affiliation: Laboratoire de Cytogénétique, Génétique Moléculaire et Biologie de la Reproduction Humaines. CHU Farhat Hached, 4000, Sousse, Tunisie.
authors.forename: Houda
authors.initials: H
authors.lastname: Ghédir
authors.affiliation: Laboratoire de Cytogénétique, Génétique Moléculaire et Biologie de la Reproduction Humaines. CHU Farhat Hached, 4000, Sousse, Tunisie.
authors.forename: Samira
authors.initials: S
authors.lastname: Ibala-Romdhane
authors.affiliation: Université Grenoble Alpes, Grenoble, F-38000, France.|Equipe "Génétique, Epigénétique et thérapies de l'Infertilité" Institut Albert Bonniot, INSERM U823, Grenoble, F-38000, France.|CHU de Grenoble, UF de Biochimie et Génétique Moléculaire, Grenoble, F-38000, France.|Fédération Française des CECOS, France, Paris.|Faculté de Médecine de Grenoble, Laboratoire d'Aide à la Procréation-CECOS, Laboratoire AGe, Imagerie, Modélisation, Équipe Génétique-Infertilité-Thérapeutique, Grenoble, France.
authors.forename: Pierre F
authors.initials: PF
authors.lastname: Ray
authors.affiliation: Laboratoire de Cytogénétique, Génétique Moléculaire et Biologie de la Reproduction Humaines. CHU Farhat Hached, 4000, Sousse, Tunisie.
authors.forename: Ali
authors.initials: A
authors.lastname: Saad
authors.affiliation: Université Grenoble Alpes, Grenoble, F-38000, France.|Equipe "Génétique, Epigénétique et thérapies de l'Infertilité" Institut Albert Bonniot, INSERM U823, Grenoble, F-38000, France.|CHU de Grenoble, UF de Biochimie et Génétique Moléculaire, Grenoble, F-38000, France.|Fédération Française des CECOS, France, Paris.|Faculté de Médecine de Grenoble, Laboratoire d'Aide à la Procréation-CECOS, Laboratoire AGe, Imagerie, Modélisation, Équipe Génétique-Infertilité-Thérapeutique, Grenoble, France.
authors.forename: Sylvianne
authors.initials: S
authors.lastname: Hennebicq
authors.affiliation: Département Génomique Fonctionnelle et Cancer, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Institut National de Santé et de Recherche Médicale (INSERM) U964/Centre National de Recherche Scientifique (CNRS) UMR 7104/Université de Strasbourg, 67404, Illkirch, France.|Centre Hospitalier Universitaire de Strasbourg, 67000, Strasbourg, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Viville
mesh_terms: D004252:DNA Mutational Analysis; D018703:Founder Effect; D005838:Genotype; D006239:Haplotypes; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion; D000072660:Teratozoospermia / Q000235:genetics*; D033921:Vesicular Transport Proteins
chemical_list: D018398:Homeodomain Proteins; C474264:SPATA16 protein, human; D033921:Vesicular Transport Proteins
keywords: GST pull-down; Globozoospermia; Linkage analysis; Male infertility; SPATA16