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

Giovanna Vinci; Raja Brauner; Attila Tar; Hassan Rouba; Jayesh Sheth; Frenny Sheth; Celia Ravel; Ken McElreavey; Anu Bashamboo

doi:10.1016/j.fertnstert.2009.04.009

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

Fertil Steril. 2009 Oct;92(4):1347-1350. doi: 10.1016/j.fertnstert.2009.04.009. Epub 2009 May 21.

Authors

Giovanna Vinci¹, Raja Brauner², Attila Tar³, Hassan Rouba⁴, Jayesh Sheth⁵, Frenny Sheth⁵, Celia Ravel⁶, Ken McElreavey⁷, Anu Bashamboo¹

Affiliations

¹ Human Developmental Genetics, Institut Pasteur, Paris, France.
² Université Paris Descartes and AP-HP, Hôpital Bicêtre, Unité d'Endocrinologie pédiatrique, Le Kremlin Bicêtre, France.
³ Heim Pál Children's Hospital, Budapest, Hungary.
⁴ Human Genetics Unit, Institut Pasteur of Morocco, Casablanca, Morroco.
⁵ Foundation For Research in Genetics and Endocrinology, FRIGE, House, Satellite, Ahmedabad, Gujarat, India.
⁶ 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.
⁷ Human Developmental Genetics, Institut Pasteur, Paris, France. Electronic address: [email protected].

PMID: 19463995
DOI: 10.1016/j.fertnstert.2009.04.009

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence
Case-Control Studies
Chromosomes, Human, Y / genetics
DNA Mutational Analysis
Female
Genetic Testing
Gonadal Dysgenesis, 46,XY / complications
Gonadal Dysgenesis, 46,XY / genetics*
Humans
Infant, Newborn
Infertility, Male / genetics*
Male
Molecular Sequence Data
Mutation / physiology
Nuclear Proteins / genetics*
Sequence Homology, Amino Acid
Sudden Infant Death / genetics

Substances

Nuclear Proteins
TSPYL1 protein, human