title: Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility.
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.
authors.affiliation: Human Developmental Genetics, Institut Pasteur, Paris, France.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Vinci
authors.affiliation: Université Paris Descartes and AP-HP, Hôpital Bicêtre, Unité d'Endocrinologie pédiatrique, Le Kremlin Bicêtre, France.
authors.forename: Raja
authors.initials: R
authors.lastname: Brauner
authors.affiliation: Heim Pál Children's Hospital, Budapest, Hungary.
authors.forename: Attila
authors.initials: A
authors.lastname: Tar
authors.affiliation: Human Genetics Unit, Institut Pasteur of Morocco, Casablanca, Morroco.
authors.forename: Hassan
authors.initials: H
authors.lastname: Rouba
authors.affiliation: Foundation For Research in Genetics and Endocrinology, FRIGE, House, Satellite, Ahmedabad, Gujarat, India.
authors.forename: Jayesh
authors.initials: J
authors.lastname: Sheth
authors.affiliation: Foundation For Research in Genetics and Endocrinology, FRIGE, House, Satellite, Ahmedabad, Gujarat, India.
authors.forename: Frenny
authors.initials: F
authors.lastname: Sheth
authors.affiliation: 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.
authors.forename: Celia
authors.initials: C
authors.lastname: Ravel
authors.affiliation: Human Developmental Genetics, Institut Pasteur, Paris, France. Electronic address: kenmce@pasteur.fr.
authors.forename: Ken
authors.initials: K
authors.lastname: McElreavey
authors.affiliation: Human Developmental Genetics, Institut Pasteur, Paris, France.
authors.forename: Anu
authors.initials: A
authors.lastname: Bashamboo
mesh_terms: D000595:Amino Acid Sequence; D016022:Case-Control Studies; D041322:Chromosomes, Human, Y / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000502:physiology; D009687:Nuclear Proteins / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D013398:Sudden Infant Death / Q000235:genetics
chemical_list: D009687:Nuclear Proteins; C510183:TSPYL1 protein, human