New gene identified by Aussie researchers

Researchers from the Women's and Children's Hospital (WCH) Adelaide, as part of an international collaboration, have identified a gene implicated in a type of intellectual disability called Sutherland-Haan Syndrome. The syndrome was first identified by and named after Professor Grant Sutherland and Associate Professor Eric Haan, from the WCH Adelaide, South Australia.

The research findings showed that abnormalities in the gene, called PQBP1, were found in five of 29 families studied worldwide, each with severally intellectually disabled males. PQBP1 has previously been linked to several neurological disorders, including Huntington disease.

According to Associate Professor Jozef Gecz, leader of the local research team, "we still don't know how much this gene contributes to intellectual disability in boys, but it certainly is a key player and discovering the gene defect also means that young women from affected families can now be tested to work out if they are carriers and at risk of having affected sons."