1. Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility
- Author
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Célia Ravel, Attila Tar, Anu Bashamboo, Giovanna Vinci, Hassan Rouba, Frenny Sheth, Ken McElreavey, Raja Brauner, and Jayesh Sheth
- Subjects
Male ,endocrine system ,medicine.medical_specialty ,DNA Mutational Analysis ,Molecular Sequence Data ,Gonadal dysgenesis ,Biology ,Testicle ,urologic and male genital diseases ,medicine.disease_cause ,Male infertility ,Internal medicine ,medicine ,Humans ,Amino Acid Sequence ,Genetic Testing ,Gene ,Infertility, Male ,Genetic testing ,Gonadal Dysgenesis, 46,XY ,Azoospermia ,Mutation ,Chromosomes, Human, Y ,Sequence Homology, Amino Acid ,medicine.diagnostic_test ,urogenital system ,Infant, Newborn ,Case-control study ,Nuclear Proteins ,Obstetrics and Gynecology ,medicine.disease ,Endocrinology ,medicine.anatomical_structure ,Reproductive Medicine ,Case-Control Studies ,Female ,Sudden Infant Death - Abstract
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.
- Published
- 2009