Jaiswal Deepika, Singh Vertika, Dwivedi U S, Trivedi Sameer, Singh Kiran
Department of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India.
Department of Urology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.
Gene. 2014 Jun 1;542(2):263-5. doi: 10.1016/j.gene.2014.03.055. Epub 2014 Mar 29.
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.
我们报告了两兄弟的病例，他们因不育症检查被转诊至男性不育诊所。常规染色体分析和Y染色体微缺失未发现任何基因改变。我们利用染色体微阵列分析（CMA）来识别与这种严重受损精子发生病例相关的新的和常见变异。CMA的具体结果显示，在两例患者（M18和M19）中，15q15.3区域存在一个共同缺失，该区域包含CATSPER2、STR和PPIP5K1等基因。此外，我们在M19的X染色体和11号染色体上发现了小的重复。这是印度首例关于人类男性不育中CATSPER基因缺失发生情况的家族病例报告。
