Article
Point-of-care whole-exome sequencing of idiopathic male infertility.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2018
Fakhro Khalid A, Elbardisi Haitham, Arafa Mohamed, Robay Amal, Rodriguez-Flores Juan L, Al-Shakaki Alya, Syed Najeeb, Mezey Jason G, Abi Khalil Charbel, Malek Joel A, Al-Ansari Abdulla, Al Said Sami, Crystal Ronald G
Abstract excerpt
PURPOSE: Nonobstructive azoospermia (NOA) affects 1% of the male population; however, despite state-of-the-art clinical assessment, for most patients the cause is unknown. We capitalized on an analysis of multiplex families in the Middle East to identify highly penetrant genetic causes. METHODS: We used whole-exome sequencing (WES) in 8 consanguineous families and combined newly discovered genes with previously...
Topics
- Adult
- Azoospermia
- Cell Cycle Proteins
- Consanguinity
- Endodeoxyribonucleases
- Genetic Association Studies
- Genetic Predisposition to Disease
- Humans
- Infertility, Male