Publications by authors named "J Fortemps"
Down syndrome (DS), or Trisomy 21, is the most common chromosomal disorder in humans. Men with DS are infertile. The DYRK1A gene on Hsa21 is involved in several features of DS.
View Article and Find Full Text PDFArticle Synopsis
- Gene expression in meiotic cells in the testis involves high transcription activity and alternative splicing, governed by RNA-binding proteins crucial for fertility.
- A frameshift mutation was found in the RBMXL2 gene of a man with azoospermia, which is linked to meiotic arrest.
- The study confirmed loss of RBMXL2 protein in the patient's testis, indicating that the mutation disrupts spermatogenesis and leads to male infertility through altered gene expression.
Article Synopsis
- Whole-exome sequencing (WES) combined with testicular sperm extraction (TESE) offers valuable insights for men experiencing maturation arrest (MA) after a first unsuccessful TESE.
- Current clinical guidelines lack predictive tests for outcomes in recurrent TESE following MA, and WES could fill this gap, aiding in decision-making.
- The study analyzed 26 men with idiopathic non-obstructive azoospermia and identified various genetic variants that may impact spermatogenesis, suggesting potential pathways for future research and patient management.
Background: Although chromosome rearrangements are responsible for spermatogenesis failure, their impact depends greatly on the chromosomes involved. At present, karyotyping and Y chromosome microdeletion screening are the first-line genetic tests for patients with non-obstructive azoospermia. Although it is generally acknowledged that X or Y chromosome rearrangements lead to meiotic arrest and thus rule out any chance of sperm retrieval after a testicular biopsy, we currently lack markers for the likelihood of testicular sperm extraction (TESE) in patients with other chromosome rearrangements.
View Article and Find Full Text PDF