nstd139 (Luo et al. 2019)
- Organism:
- Human
- Study Type:
- Case-Set
- Submitter:
- Tao Luo
- Description:
- Gene deletion studies in mice have showed that CatSper is crucial for mammalian male fertility. However, the significance of CatSper for human fertilization remains largely unclear. Therefore, a case only containing CatSper deficiency should help reveal the significance of CatSper on human sperm functions. In this study, we identified a CatSper current-deficient man who is an idiopathic infertile patient with normal sperm morphology, count and initial motility. This patient is an ideal case to study the functional significance of CatSper for fertilization success. Thus human whole-genome resequencing was used to identify novel genetic variations responsible for infertility in the patient. See Variant Summary counts for nstd139 in dbVar Variant Summary.
- Project:
- PRJNA360356
- Publication(s):
- Luo et al. 2019