Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 11, Issue 7, Pages 497-502Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.ejhg.5200991
Keywords
CATSPER2; male-infertility; tandem duplication; contiguous gene syndromes; 15q15; genomic deletion
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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 similar to70 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.
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