CATSPER2, a human autosomal nonsyndromic male infertility gene

Nili Avidan, Hannah Tamary, Orly Dgany, Daniel Cattan, Alexandre Pariente, Michel Thulliez, Nicolas Borot, Lucien Moati, Alain Barthelme, Lea Shalmon, Tatyana Krasnov, Edna Ben-Asher, Tsvyia Olender, Miriam Khen, Isaac Yaniv, Rina Zaizov, Hanna Shalev, Jean Delaunay, Marc Fellous, Doron LancetJacques S. Beckmann

Research output: Contribution to journalArticlepeer-review

145 Scopus citations


In the course of positional cloning of the Congenital Dyserythropoietic Anemia type I (CDAI) [MIM 224120] gene on 15q15.1-15.3, we examined a family of French origin, in which the propositus suffered from asthenoteratozoospermia and nonsyndromic deafness in addition to CDAI. Two of his brothers had a similar phenotype. All three siblings were homozygous carriers of the CDA1 mutation as well as of a distally located ∼ 70 kb deletion of the proximal copy of a 106 kb tandem repeat on chromosome 15q15. These repeats encode four genes whose distal copies may be considered pseudogenes. Lack of functional stereocilin and CATSPER2 (a voltage-gate cation channel expressed specifically in spermatozoa) may explain the observed deafness and male infertility phenotypes. To the best of our knowledge, the involvement of CATSPER2 in asthenoteratozoospermia is the first description of a human autosomal gene defect associated with nonsyndromic male infertility.

Original languageEnglish
Pages (from-to)497-502
Number of pages6
JournalEuropean Journal of Human Genetics
Issue number7
StatePublished - 1 Jul 2003
Externally publishedYes


  • 15q15
  • Contiguous gene syndromes
  • Genomic deletion
  • Male-infertility
  • Tandem duplication

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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