University of Strasbourg

Member Details

Stéphane Viville, PU-PH

1) Laboratoire de Diagnostic Génétique
UF3472-génétique de l’infertilité

2) Institut de Parasitologie et Pathologie Tropicale
EA 7292
Fédération de Médecine Translationelle (IPPTS)

1) Nouvel Hôpital Civil
1 Place de l’Hôpital
BP 426
67091 Strasbourg Cedex

2) Université de Strasbourg
3 Rue Koeberlé
67000 Strasbourg France.


Professional URL:

Team Members

Laboratoire de Diagnostic Génétique

  • Cécile Lang – Researcher Engineer
  • Yara Tatabay – Post-Doc
  • Marius Teletin – Assistant Professor
  • Jean Muller – Assistant Professor
  • Anne-Sophie‎ Leuvrey – Technician


Improvement of and setting standards for clinical phenotyping, building structures to collect well-phenotyped patient groups, e.g. based on testicular histology.

Member Description

Since more than fifteen years, Prof. Stéphane Viville’s team is focusing his research on the identification of genes involved in non-syndromic infertility. His team main aim is to identify genetic factors involved in important processes during human gametogenesis, defining new genes involved in infertility phenotype and open the possibility to study their functions in vivo and in vitro. The goal is to conduct translational research going from basic science in order to decipher the molecular mechanisms of human gametogenesis to routine diagnosis.

Since 8 years, we are using targeted and exome sequencing to identify gene mutations, mainly working on consanguineous families, but not only.

This research work in performed in collaboration with international IVF centers in Belgium, Turkey, Tunisia, Morocco, Lebanon

At the end of 2015, we established a functional unit (FU) dedicated to the genetics of infertility within the genetic ward of the Strasbourg university hospital (HUS). This FU is devoted to the development of new diagnostic tools and the offer of these diagnoses to the medical community. We have set up a panel of 136 genes involved in male and female non-syndromic infertility.

Having created and analyzed a large number of KO mouse, Prof. Stéphane Viville has a large experience in studying the mouse model.

In addition, Stéphane Viville has some expertise in deriving and growing human and mouse pluripotent stem cells, induced or embryonic stem cells.

With Pr. Karen Sermon, He has edited the book “Textbook of Human Reproductive Genetics”, Edd : K. Sermon and S. Viville; Cambridge University Press (UK); 2014


Verpoest W, Okutman O, Van Der Kelen A et al (2023) Genetics of infertility: a paradigm shift for medically assisted reproduction. Hum Reprod. 38(12):2289-2295.

Van Der Kelen A, Okutman O, Javey E et al (2023) A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development. Hum Reprod Update 29(2):218-232.

Boursier A,Boudry A, Mitchell V, et al. (2023) Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy. RBMO 47(5):103328.

Okutman O, Boivin M, Muller J, et al (2022) A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest. Hum Reprod. pp. 1–9.

Okutman O, Tarabeux J, Muller J & Viville S (2021) Evaluation of a custom design gene panel as a diagnostic tool for human non-syndromic infertility. Genes 12(3):410.

Houston B, Oud M, Aguirre D, et al (2020) Programmed cell death 2-like (Pdcd2l) is required for mouse embryonic development. Genes Genomes Genetics 10(12):4449-4457.

Okutman Ö, Demirel C, Tülek F, et al (2020) Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect. Genes (Basel) 11:382.

Oud MS, Okutman Ö, Hendricks LAJ, et al (2020) Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia. Hum Reprod 35:240–252.

Ghédir H, Braham A, Viville S, et al (2019) Comparison of sperm morphology and nuclear sperm quality in SPATA16‐ and DPY19L2‐ mutated globozoospermic patients. Andrologia 51:e13277.

Okutman O, Rhouma M Ben, Benkhalifa M, et al (2018) Genetic evaluation of patients with non-syndromic male infertility. J Assist Reprod Genet 35:1939–1951.

Oud MS, Ramos L, O’Bryan MK, et al (2017) Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia. Hum Mutat 38:1592–1605.

Okutman O, Muller J, Skory V, et al (2017) A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family. J Assist Reprod Genet 34:683–694.

Tarabay Y, Achour M, Teletin M, et al (2017) Tex19 paralogs are new members of the piRNA pathway controlling retrotransposon suppression. J Cell Sci 130:1463–1474.

Ghédir H, Ibala-Romdhane S, Okutman O, et al (2016) Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia. Mol Hum Reprod 22:35–45.

ElInati E, Fossard C, Okutman O, et al (2016) A new mutation identified in SPATA16 in two globozoospermic patients. J Assist Reprod Genet 33:815–820.

Okutman O, Muller J, Baert Y, et al (2015) Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family. Hum Mol Genet 24:5581–5588.

Tarabay Y, Kieffer E, Teletin M, et al (2013) The mammalian-specific Tex19.1 gene plays an essential role in spermatogenesis and placenta-supported development. Hum Reprod 28:2201–2214.

ElInati E, Kuentz P, Redin C, et al (2012) Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. Hum Mol Genet 21:3695–3702.

Kuentz P, Vanden Meerschaut F, ElInati E, et al (2013) Assisted oocyte activation overcomes fertilization failure in globozoospermic patients regardless of the DPY19L2 status. Hum Reprod 28:1054–1061.

Koscinski I, ElInati E, Fossard C, et al (2011) DPY19L2 Deletion as a Major Cause of Globozoospermia. Am J Hum Genet 88:344–350.

Dam AHDM, Koscinski I, Kremer JAM, et al (2007) Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia. Am J Hum Genet 81:813–820.


 Prof. Stéphane Viville research is founded by different national institutions such as agence nationale pour la recercher (ANR), Fondation pour les maladies rares, Agence de la biomédecine, Université de Strasbourg, Strasbourg university hospital.