Identification of missense DMC1 variants in males with non-obstructive azoospermia
Our extensive genomic study identified three rare, recessive DMC1 variants in human NOA patients. Further, we report an alternative maturation arrest phenotype than previously observed in DMC1-related NOA. We also provide preliminary support for the possible exploration of select single heterozygous variants in the DMC1 gene, potentially expanding the male infertility field's understanding of the disease states and inheritance patterns associated with variants in DMC1.
Authors
- Kristiina Lillepea (ORCID: https://orcid.org/0009-0009-9238-7655)
- Avirup Dutta (ORCID: https://orcid.org/0000-0002-3595-6198)
- Rain Inno (ORCID: https://orcid.org/0000-0002-9205-3884)
- Joris A. Veltman (ORCID: https://orcid.org/0000-0002-3218-8250)
- Alexander N. Yatsenko (ORCID: https://orcid.org/0000-0002-1690-0172)
- Antoni Riera‐Escamilla (ORCID: https://orcid.org/0000-0002-4485-3094)
- Maciej Kurpisz (ORCID: https://orcid.org/0000-0003-3275-3245)
- Sadia Fatima (ORCID: https://orcid.org/0000-0002-1677-5535)
- Agnieszka Malcher (ORCID: https://orcid.org/0000-0002-3433-6990)
- Andrea J. Berman (ORCID: https://orcid.org/0000-0003-1217-7412)
- Donald F. Conrad (ORCID: https://orcid.org/0000-0003-3828-8970)
- Marta Olszewska (ORCID: https://orcid.org/0000-0002-2337-4545)
- Maris Laan (ORCID: https://orcid.org/0000-0002-8519-243X)
- Kyle E. Orwig (ORCID: https://orcid.org/0000-0002-7952-8419)
- Miguel J. Xavier (ORCID: https://orcid.org/0000-0003-0709-7223)
- Michelle R. Malizio
- Rubina Nazli (ORCID: https://orcid.org/0000-0002-5845-8933)
- Christopher Pombar
- Helen Castillo‐Madeen
- Carlos A. Castro (ORCID: https://orcid.org/0000-0003-2419-3604)
- Noor Ullah (ORCID: https://orcid.org/0009-0002-5775-7365)
- Muhammad Jaseem Khan (ORCID: https://orcid.org/0000-0002-8089-8409)
- Anu Valkna
- Rachel Hvasta-Gloria
Institutions
- Oregon National Primate Research Center (US)
- Oregon Health & Science University (US)
- University of Pittsburgh (US)
- Khyber Medical University (PK)
- Magee-Womens Research Institute (US)
- Institute of Human Genetics (PL)
- University of Tartu (EE)
- Newcastle University (GB)
- Polish Academy of Sciences (PL)
Publication Details
- Journal
- Journal of Assisted Reproduction and Genetics
- Published
- 2025-08-15
- DOI
- https://doi.org/10.1007/s10815-025-03591-6
- Primary Topic
- Sperm and Testicular Function
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institute of General Medical Sciences
- Eunice Kennedy Shriver National Institute of Child Health and Human Development