• PMID: 17517394
• Gene Name: ND4
• Condition: Low sperm motility, oligoasthenozoospermia
• Association: Associated
• Mutation: C11994T
• Sex: Male
• Infertility type: Male infertility
• Associated genes: ND4
• Other associated phenotypes: Low sperm motility, oligoasthenozoospermia

Mutation C11994T in the mitochondrial ND4 gene is not a cause of low sperm motility in Portugal

Pereira L, Gonçalves J, Bandelt HJ.

It has recently been suggested that a hitherto unobserved mutation, C11994T, causes oligoasthenozoospermia in men from India but at the same time does not affect systems other than the motility of the sperm. There are good reasons to question this proposition, in view of the worldwide mtDNA database and the Indian record in particular. We have further analyzed the oligoasthenozoospermic samples from a previous systematic study of infertile Portuguese men and found no instance of C11994T. FAU - Pereira, Luísa AU - Pereira L AD - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal. FAU - Gonçalves, João AU - Gonçalves J