Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
Fiche publication
Date publication
novembre 2022
Journal
Andrology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr KUENTZ Paul
Tous les auteurs :
Capron C, Januel L, Vieville G, Jaillard S, Kuentz P, Salaun G, Nadeau G, Clement P, Brechard MP, Herve B, Dupont JM, Gruchy N, Chambon P, Abdelhedi F, Dahlen E, Vago P, Harbuz R, Plotton I, Coutton C, Belaud-Rotureau MA, Schluth-Bolard C, Vialard F
Lien Pubmed
Résumé
The translocation of SRY onto one of the two X chromosomes results in a 46,XX testicular disorder of sex development; this is supposedly because of non-allelic homologous recombination between the protein kinase X gene (PRKX) and the inverted protein kinase Y pseudogene (PRKY). Although 46,XX SRY-positive men are infertile, the literature data indicate that some of these individuals are of short stature (relative to the general population). We sought to determine whether short stature was linked to additional, more complex chromosomal rearrangements.
Mots clés
46,XX SRY-positive male syndrome, PRKX, arylsulfatase E gene, chromosomal rearrangement, replication-based mechanisms, short stature
Référence
Andrology. 2022 11;10(8):1625-1631