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30 November 2010
Penis defect triggered by maternal gene

Nature Genetics reports that European medicos have discovered a new gene associated with hypospadias, the congenital malformation of the penis.

It was previously known that genetics play a part in the condition, with 5 percent of patients having an affected male relative, but the genes involved were unknown. This study shows for the first time that a gene inherited from the mother is likely to be the culprit.

Hypospadias affects around 1-in-375 boys. In these infants the urethral opening is not located at the tip of the penis, but somewhere halfway, at the base of the penis, or in the scrotum. Children with the condition typically undergo surgery between six and 18 months of age, but the malformation may have serious consequences later in life.

The study revealed a strong association between changes in the DGKK gene and hypospadias. A boy with a modified DGKK gene has 2.5 times increased risk of being born with the condition compared to other boys. The DGKK gene is inherited from the mother.

"Until now we knew very little about hypospadias and why some boys are born with the condition. This study shows that changes in the DGKK gene, found on the X chromosome and inherited from the mother, play a major role in the development of the condition. But we still don't know exactly how this causes the condition, so there is more research to be done to look at environmental factors that might trigger the malformation," concluded researcher Jo Knight, from King's College London.

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Source: King's College London


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