Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility.
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.
Vinci
Giovanna
G
Human Developmental Genetics, Institut Pasteur, Paris, France.
Brauner
Raja
R
Université Paris Descartes and AP-HP, Hôpital Bicêtre, Unité d'Endocrinologie pédiatrique, Le Kremlin Bicêtre, France.
Tar
Attila
A
Heim Pál Children's Hospital, Budapest, Hungary.
Rouba
Hassan
H
Human Genetics Unit, Institut Pasteur of Morocco, Casablanca, Morroco.
Sheth
Jayesh
J
Foundation For Research in Genetics and Endocrinology, FRIGE, House, Satellite, Ahmedabad, Gujarat, India.
Sheth
Frenny
F
Foundation For Research in Genetics and Endocrinology, FRIGE, House, Satellite, Ahmedabad, Gujarat, India.
Ravel
Celia
C
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.
McElreavey
Ken
K
Human Developmental Genetics, Institut Pasteur, Paris, France. Electronic address: kenmce@pasteur.fr.
Bashamboo
Anu
A
Human Developmental Genetics, Institut Pasteur, Paris, France.
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
D009687:Nuclear Proteins; C510183:TSPYL1 protein, human