title: CATSPER2, a human autosomal nonsyndromic male infertility gene.
abstract: 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.
authors.affiliation: Department of Molecular Genetics, The Crown Human Genome Center, The Weizmann Institute of Science, Rehovot 76100, Israel.
authors.forename: Nili
authors.initials: N
authors.lastname: Avidan
authors.forename: Hannah
authors.initials: H
authors.lastname: Tamary
authors.forename: Orly
authors.initials: O
authors.lastname: Dgany
authors.forename: Daniel
authors.initials: D
authors.lastname: Cattan
authors.forename: Alexandre
authors.initials: A
authors.lastname: Pariente
authors.forename: Michel
authors.initials: M
authors.lastname: Thulliez
authors.forename: Nicolas
authors.initials: N
authors.lastname: Borot
authors.forename: Lucien
authors.initials: L
authors.lastname: Moati
authors.forename: Alain
authors.initials: A
authors.lastname: Barthelme
authors.forename: Lea
authors.initials: L
authors.lastname: Shalmon
authors.forename: Tatyana
authors.initials: T
authors.lastname: Krasnov
authors.forename: Edna
authors.initials: E
authors.lastname: Ben-Asher
authors.forename: Tsvyia
authors.initials: T
authors.lastname: Olender
authors.forename: Miriam
authors.initials: M
authors.lastname: Khen
authors.forename: Issac
authors.initials: I
authors.lastname: Yaniv
authors.forename: Rina
authors.initials: R
authors.lastname: Zaizov
authors.forename: Hanna
authors.initials: H
authors.lastname: Shalev
authors.forename: Jean
authors.initials: J
authors.lastname: Delaunay
authors.forename: Marc
authors.initials: M
authors.lastname: Fellous
authors.forename: Doron
authors.initials: D
authors.lastname: Lancet
authors.forename: Jacques S
authors.initials: JS
authors.lastname: Beckmann
mesh_terms: D000742:Anemia, Dyserythropoietic, Congenital / Q000235:genetics*; D015220:Calcium Channels / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007473:Ion Channels / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D029589:Seminal Plasma Proteins / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: C482695:CATSPER2 protein, human; D015220:Calcium Channels; C480636:CatSper2 protein, mouse; D007473:Ion Channels; D029589:Seminal Plasma Proteins