• PMID: 12825070
• Gene Name: STRC
• Condition: Infertility
• Association: Study linking CATSPER2 to infertility
• Mutation: 70 kb deletion
• Population size: 1family
• Age: 56
• Sex: Male
• Infertility type: Male infertility
• Associated genes: KIAA0377, CATSPER2
• Other associated phenotypes: Congenital Dyserythropoietic Anemia type I (CDAI), asthenoteratozoospermia and nonsyndromic deafness

CATSPER2, a human autosomal nonsyndromic male infertility gene

Avidan N, Tamary H, Dgany O, Cattan D, Pariente A, Thulliez M, Borot N, Moati L, Barthelme A, Shalmon L, Krasnov T, Ben-Asher E, Olender T, Khen M, Yaniv I, Zaizov R, Shalev H, Delaunay J, Fellous M, Lancet D, Beckmann JS.

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 approximately 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. FAU - Avidan, Nili AU - Avidan N AD - Department of Molecular Genetics, The Crown Human Genome Center, The Weizmann Institute of Science, Rehovot 76100, Israel. FAU - Tamary, Hannah AU - Tamary H FAU - Dgany, Orly AU - Dgany O FAU - Cattan, Daniel AU - Cattan D FAU - Pariente, Alexandre AU - Pariente A FAU - Thulliez, Michel AU - Thulliez M FAU - Borot, Nicolas AU - Borot N FAU - Moati, Lucien AU - Moati L FAU - Barthelme, Alain AU - Barthelme A FAU - Shalmon, Lea AU - Shalmon L FAU - Krasnov, Tatyana AU - Krasnov T FAU - Ben-Asher, Edna AU - Ben-Asher E FAU - Olender, Tsvyia AU - Olender T FAU - Khen, Miriam AU - Khen M FAU - Yaniv, Issac AU - Yaniv I FAU - Zaizov, Rina AU - Zaizov R FAU - Shalev, Hanna AU - Shalev H FAU - Delaunay, Jean AU - Delaunay J FAU - Fellous, Marc AU - Fellous M FAU - Lancet, Doron AU - Lancet D