St George's research aids rare genetic disorder breakthrough
Research by St George’s, University of London has helped reveal vital new information about an extremely rare and potentially fatal genetic disorder. Osteopathia striata with cranial sclerosis, or OSCS, is a rare condition that affects just one in every 1.5 million people. It can cause severe mental and physical disability in boys, including respiratory problems and missing bones. Among the visible symptoms are a cleft palate, enlarged head, small jaw and small ears.
The same gene mutation that causes OSCS is also present in many cases of a cancer found in children called Wilms’ tumour. Researchers have now found that, despite having the same mutation of a gene called an oncogene, those diagnosed with OSCS are not predisposed to developing the cancer.
A new study showing the latest research has been published as an advance online publication by Nature Genetics. The study was led by Professor Stephen Robertson of the Department of Paediatrics and Pathology at the Dunedin School of Medicine in New Zealand. St George’s Consultant Geneticist Dr Sahar Mansour assisted the study. She provided DNA samples from two OSCS patients she has been working with — a mother and her 13-month-old daughter.
Dr Mansour said the new research was “very exciting” and added: “It is difficult to explain why patients with this condition do not have an increased risk of Wilms’ tumour so it will help in understanding the molecular basis for cancer.”
Dr Mansour and her patients’ assistance also played a vital role in Professor Robertson’s discovery earlier this year of the genetic mutation that causes OSCS.
She said: “For this family and others like them it means we are able to offer prenatal diagnosis and preimplantation diagnosis, so it opens their options. Knowing the precise diagnosis helps to determine the prognosis and possible problems.”
Because OSCS is what is known as an X-linked genetic disorder, it affects boys much more severely than girls. This is because girls have two X chromosomes, meaning if one gene is affected they have another gene to compensate. Boys only have one X chromosome, so while a girl born with OSCS is likely to have treatable symptoms, it could be fatal for a boy.
Send to friend
Print this page