Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility

Link to Pubmed [PMID] – 19463995

Fertil. Steril. 2009 Oct;92(4):1347-50

We screened 100 individuals with anomalies of testicular development or function for mutations in the TSPYL1 gene. A 46,XY female with complete gonadal dysgenesis carried a p.K320R mutation in the highly conserved NAP domain, and a 46,XY male with idiopathic azoospermia harbored a p.R89H mutation, and this data supports the hypothesis that mutations in TSPYL1 may contribute to anomalies of testicular development/function.