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

https://www.ncbi.nlm.nih.gov/pubmed/36026611

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.