• PMID: 19463995
• Gene Name: TSPYL1
• Condition: 46,XY female, gonadal dysgenesis, idiopathic azoospermia, male infertility
• Association: Associated
• Mutation: p.K320R, p.R89H
• Population size: 100
• Population details: 100 individuals with anomalies of testicular development
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: 46,XY female, gonadal dysgenesis, idiopathic azoospermia, male infertility

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

Vinci G, Brauner R, Tar A, Rouba H, Sheth J, Sheth F, Ravel C, McElreavey K, Bashamboo A.

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. FAU - Vinci, Giovanna AU - Vinci G AD - Human Developmental Genetics, Institut Pasteur, Paris, France. FAU - Brauner, Raja AU - Brauner R AD - Université Paris Descartes and AP-HP, Hôpital Bicêtre, Unité d'Endocrinologie pédiatrique, Le Kremlin Bicêtre, France. FAU - Tar, Attila AU - Tar A AD - Heim Pál Children's Hospital, Budapest, Hungary. FAU - Rouba, Hassan AU - Rouba H AD - Human Genetics Unit, Institut Pasteur of Morocco, Casablanca, Morroco. FAU - Sheth, Jayesh AU - Sheth J AD - Foundation For Research in Genetics and Endocrinology, FRIGE, House, Satellite, Ahmedabad, Gujarat, India. FAU - Sheth, Frenny AU - Sheth F AD - Foundation For Research in Genetics and Endocrinology, FRIGE, House, Satellite, Ahmedabad, Gujarat, India. FAU - Ravel, Celia AU - Ravel C AD - Human Developmental Genetics, Institut Pasteur, Paris, France; UPMC Univ Paris, Paris, France; AP-HP, Hôpital Tenon, Service d'Histologie Biologie de la Reproduction, Paris, France. FAU - McElreavey, Ken AU - McElreavey K AD - Human Developmental Genetics, Institut Pasteur, Paris, France. Electronic address: kenmce@pasteur.fr.