• PMID: 24690399
• Gene Name: CatSper
• Condition: Male infertility, severely impaired spermatogenesis
• Association: Associated
• Mutation: Deletion in the 15q15.3 region
• Population size: 2
• Population details: 2 brothers suffering from male infertility
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility, severely impaired spermatogenesis

Chromosome microarray analysis: a case report of infertile brothers with CATSPER gene deletion

Jaiswal D, Singh V, Dwivedi US, Trivedi S, Singh K.

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. CI - Copyright © 2014 Elsevier B.V. All rights reserved. FAU - Jaiswal, Deepika AU - Jaiswal D AD - Department of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India. FAU - Singh, Vertika AU - Singh V AD - Department of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India. FAU - Dwivedi, U S AU - Dwivedi US AD - Department of Urology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India. FAU - Trivedi, Sameer AU - Trivedi S AD - Department of Urology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.