Hereditary skin gene found | Action Medical Research

Hereditary skin gene found

30 May 2000
Condition has been known to result in spontaneous abortion The gene that causes a hereditary skin condition in new-born and infant girls has been identified by scientists funded by the leading medical charity, Action Research. The findings are published this week’s issue of Nature Magazine (May25). Young girls with Incontinentia Pigmenti (IP) suffer from affected skin, hair and eyes and in more serious cases neurological problems, epilepsy, spasticity and mental deficit. Boys can also inherit the defective gene but they die at an early stage in pregnancy. As a result of IP, which affects 1 in 10,000 women, affected mothers can have multiple spontaneous abortions. Those who suffer with this condition develop severe blistering similar to chicken pox or herpes. The blisters can become wart-like, and problems with pigmentation due to damaged skin cells can result in brown markings. Other characteristics include abnormal, or missing teeth, permanent visual defects, blindness, stroke and seizures. The variable symptoms have made diagnosis of IP very difficult but it is hoped that the discovery of the gene will lead to better diagnosis of this condition and new treatments in the future. The discovery of the gene follows the findings of a MORI poll commissioned by Action Research recently, which reported that the majority of adults - three out of every four - say that it is likely that they would allow their child to undergo gene therapy in order to treat a genetic disease such as cystic fibrosis, if it was thought the process might help. Action Research’s Communications Director, John Grounds, said: ``Identification of the gene responsible is a major breakthrough and will help in diagnosing and understanding of the cause of IP in the future.’’ He added: ``However, further medical research is now needed if we are to develop new treatments to alleviate the symptoms of this distressing condition which can devastate the lives of these girls and their families.’’
Help us spread the word