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Novel mutations in calcium/calmodulin-dependent protein kinase IV (CAMK4) gene in infertile men

International Journal of Andrology Nov 01, 2019

Khattri A, Reddy VP, Pandey RK, et al. - The lack of availability of study assessing the link between calcium/calmodulin-dependent protein kinase IV (CAMK4; a multifunctional serine/threonine protein kinase, which has a crucial role in the spermatogenesis via phosphorylating protamines) gene and male infertility has led researchers to perform this study to examine all the exons of CAMK4 gene in ethnically matched 283 infertile and 268 fertile Indian men. Overall 20 nucleotide substitutions were discovered, including 12 novel ones. Eight of these new variants were exclusively identified in infertile men. They also found five new insertion–deletion mutations, additional to nucleotide substitutions. Of these, the exclusive presence of g.150264_66delGCG in two oligoasthenoteratozoospermic men was reported. Experts concluded that abnormal semen parameters may result from mutations in CAMK4.
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