| Institution: | (1) Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Ravila 19, Tartu, 50411, Estonia;(2) Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia;(3) Estonian Biocentre, Tartu, Estonia;(4) Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland;(5) Tartu University Clinics, Centre of Andrology, Tartu, Estonia;(6) Department of Physiology, University of Tartu, Tartu, Estonia;(7) Tartu University Hospital, Women’s Clinic, Tartu, Estonia |
| Abstract: | We describe the first case of two chromosomal abnormalities, balanced reciprocal translocation t(5;13)(q33;q12.1) and a microduplication
in the region 9q31.1, in a man suffering from infertility and pollinosis. In the region 13q12.1 is located the TUBA3C (tubulin, alpha 3c) gene, which plays an important dynamic role in the motility of flagella. This case might support the
opinion that haploinsufficiency of the TUBA3C gene could be the cause of sperm immotility and abnormal sperm morphology, resulting in infertility in the patient. Single-nucleotide
polymorphism (SNP) array analysis revealed a novel 9q31.1 microduplication inherited from both parents, which contributes
to the genomic instability. |
