title: Chromosome microarray analysis: a case report of infertile brothers with CATSPER gene deletion.
abstract: We present the case of two brothers who were referred to a male infertility clinic for infertility workup. Conventional chromosome analysis and Y chromosome microdeletions did not reveal any genetic alterations. We utilized the chromosome microarray analysis (CMA) to identify novel and common variations associated with this severely impaired spermatogenesis cases. CMA specific results showed a common deletion in the 15q15.3 region that harbors genes like CATSPER2, STRC and PPIP5K1 in both cases (M18 and M19). In addition we identified small duplication in X and 11 chromosomes of M19. This is the first familial case report from India on occurrence of CATSPER gene deletion in human male infertility.
authors.affiliation: Department of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India.
authors.forename: Deepika
authors.initials: D
authors.lastname: Jaiswal
authors.affiliation: Department of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India.
authors.forename: Vertika
authors.initials: V
authors.lastname: Singh
authors.affiliation: Department of Urology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.
authors.forename: U S
authors.initials: US
authors.lastname: Dwivedi
authors.affiliation: Department of Urology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.
authors.forename: Sameer
authors.initials: S
authors.lastname: Trivedi
authors.affiliation: Department of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India. Electronic address: singhk4@rediffmail.com.
authors.forename: Kiran
authors.initials: K
authors.lastname: Singh
mesh_terms: D000328:Adult; D015220:Calcium Channels / Q000235:genetics*; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D041322:Chromosomes, Human, Y; D017353:Gene Deletion; D006801:Humans; D007194:India; D007248:Infertility, Male / Q000235:genetics*; D036341:Intercellular Signaling Peptides and Proteins; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D046228:Microarray Analysis; D017856:Phosphotransferases (Phosphate Group Acceptor) / Q000235:genetics
chemical_list: C438823:CATSPER1 protein, human; D015220:Calcium Channels; D036341:Intercellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C499079:STRC protein, human; D017856:Phosphotransferases (Phosphate Group Acceptor); C519580:PPIP5K1 protein, human
keywords: CATSPER; Chromosome; Infertility; Sperm