Publication: Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia
Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia
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Saebnia, N., Ebrahimzadeh-Vesal, R., Haddad-Mashhadrizeh, A., Gholampour-Faroji, N., Schinzel, A., Neshati, Z., & Azimi-Nezhad, M. (2022). Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia. Journal of Assisted Reproduction and Genetics, 39(5), 1195–1203. https://doi.org/10.1007/s10815-022-02433-z
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Purpose: To investigate the genetic cause of nonobstructive azoospermia (NOA). Methods: We performed whole exome sequencing (WES) on the proband who had three relatives suffering from NOA. We used a list of candidate genes which have high expression level in testis and their mutations have been reported in NOA. Sanger sequencing verified the identified variant and its structural and functional consequence was evaluated by protein three-dimensional (3D) structure prediction and protein-ligand docking. Results: WES revealed a novel spli
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- Saebnia, Neda
- Ebrahimzadeh-Vesal, Reza
- Haddad-Mashhadrizeh, Aliakbar
- Gholampour-Faroji, Nazanin
- Schinzel, Albert
- Neshati, Zeinab
- Azimi-Nezhad, Mohsen
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Saebnia, N., Ebrahimzadeh-Vesal, R., Haddad-Mashhadrizeh, A., Gholampour-Faroji, N., Schinzel, A., Neshati, Z., & Azimi-Nezhad, M. (2022). Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia. Journal of Assisted Reproduction and Genetics, 39(5), 1195–1203. https://doi.org/10.1007/s10815-022-02433-z
