Public Release: 

Scientists identify gene linked to common birth defect in male genitalia

King's College London

King's College London, in collaboration with Radboud University Nijmegen Medical Centre in The Netherlands, has discovered a new gene associated with Hypospadias, the congenital malformation of the male genitalia. The research was published today in Nature Genetics.

It was previously known that genetics play a part in developing the condition, with five 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 important in development of the condition.

Hypospadias is a common congenital condition which 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 medical, psychological and sexual consequences later in life.

Dr Jo Knight, based at the Comprehensive Biomedical Research Centre at King's, assisted in the analysis of a genome-wide association study on 436 boys with hypospadias and 494 without the condition, which was undertaken by Loes van der Zanden and colleagues at Radboud University Nijmegen Medical Centre in The Netherlands.

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 located on the X chromosome and is therefore inherited from the mother.

Dr Jo Knight said: 'Until now we knew very little about hypospadias and why some boys are born with the condition. We already knew that there was a greater chance of boys being born with hypospadias if a male relative has the condition, but this study shows that changes in the DGKK gene, found on the X chromosome and inherited from the mother, plays 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 other combinations of genes and environmental factors that might trigger the malformation.'

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For further information please contact Emma Reynolds, Press Officer at King's College London, on 0207 848 4334 or email emma.reynolds@kcl.ac.uk

Notes to editors:

A copy of the Nature Genetics paper, 'Common variants in DGKK are strongly associated with risk of hypospadias', is available on request.

King's College London

King's College London is one of the top 25 universities in the world (2010 QS international world rankings), The Sunday Times 'University of the Year 2010/11' and the fourth oldest in England. A research-led university based in the heart of London, King's has nearly 23,000 students (of whom more than 8,600 are graduate students) from nearly 140 countries, and some 5,500 employees. King's is in the second phase of a £1 billion redevelopment programme which is transforming its estate.

King's has an outstanding reputation for providing world-class teaching and cutting-edge research. In the 2008 Research Assessment Exercise for British universities, 23 departments were ranked in the top quartile of British universities; over half of our academic staff work in departments that are in the top 10 per cent in the UK in their field and can thus be classed as world leading. The College is in the top seven UK universities for research earnings and has an overall annual income of nearly £450 million.

King's has a particularly distinguished reputation in the humanities, law, the sciences (including a wide range of health areas such as psychiatry, medicine, nursing and dentistry) and social sciences including international affairs. It has played a major role in many of the advances that have shaped modern life, such as the discovery of the structure of DNA and research that led to the development of radio, television, mobile phones and radar. It is the largest centre for the education of healthcare professionals in Europe; no university has more Medical Research Council Centres.

King's College London and Guy's and St Thomas', King's College Hospital and South London and Maudsley NHS Foundation Trusts are part of King's Health Partners. King's Health Partners Academic Health Sciences Centre (AHSC) is a pioneering global collaboration between one of the world's leading research-led universities and three of London's most successful NHS Foundation Trusts, including leading teaching hospitals and comprehensive mental health services. For more information, visit: www.kingshealthpartners.org.

The comprehensive Biomedical Research Centre at Guy's and St Thomas' NHS Foundation Trust and King's College London, is one of five National Institute for Health Research (NIHR) comprehensive Biomedical Research Centres in England. With its strong focus on 'translational research' across seven research themes and a number of cross-cutting disciplines, it aims to take advances in basic medical research out of the laboratory and into the clinical setting to benefit patients at the earliest opportunity. Access to the uniquely diverse patient population of London and the south east enables it to drive forward research into a wide range of diseases and medical conditions.

Website: www.biomedicalresearchcentre.org

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