A5085120423- Sexual Differentiation and Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- RNA modifications and cancer
- Sperm and Testicular Function
- Urological Disorders and Treatments
Institut Pasteur
2019
Centre National de la Recherche Scientifique
2019
XY individuals with disorders/differences of sex development (DSD) are characterized by reduced androgenization caused, in some children, gonadal dysgenesis or testis regression during fetal development. The genetic etiology for most patients 46,XY and all testicular syndrome (TRS) is unknown. We performed exome and/or Sanger sequencing 145 DSD unknown including TRS. Thirteen children carried heterozygous missense pathogenic variants involving the RNA helicase DHX37, which essential ribosome...
Human sex-determination is a poorly understood genetic process, where gonad development depends on cell fate decision that occurs in somatic to commit Sertoli (male) or granulosa (female) cells. A lack of testis-determination the human results 46,XY gonadal dysgenesis. minority these cases explained by mutations genes known be involved sex-determination. Here, we identified de novo missense mutation, p.Arg235Gln highly conserved TALE homeodomain transcription factor Pre-B-Cell Leukemia...
To read the full abstract: Genet Med. 2020, Jan; 22: 150-9. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944638/pdf/41436_2019_Article_606.pdf