Screening of Females for STK9 Gene

Screening of candidate genes in children and adults with intellectual disability with or without autistic spectrum disorder.

Investigators:

Royal Alexandra Hospital for Children, Westmead
Professor John Christodoulou, Western Sydney Genetics Program - (02) 9845 3452
Dr Bruce Bennetts, Western Sydney Genetics Program - (02) 9845 3426
Dr Carolyn Ellaway, Western Sydney Genetics Program - (02) 9845 0000
Dr Katrina Williams, Dept of Clinical Epidemiology - (02) 9845 2006

Sydney Children's Hospital, Randwick
Dr David Mowat, Dept of Clinical Genetics - (02) 9382 1708

University of NSW
Associate Professor Stewart Einfeld, School of Psychiatry - (02) 9350 2447

We are conducting a research study to see if mutations in newly identified genes can be responsible for non-specific intellectual disability in females, with or without autistic features. Your child has been diagnosed as having intellectual disability with or without an associated speech, social interaction or behaviour problem of the type seen in autism. There is a genetic disorder called Rett syndrome, which affects mainly girls, in who these types of behaviours are frequently seen. A gene (called STK9) responsible for some cases of Rett syndrome has recently also been found to be associated with autistic spectrum disorder associated with intellectual disability. We wish to explore how common this finding might be by undertaking DNA testing using a blood sample from your child.

As part of our research study, we would like to collect a blood sample for DNA testing from your child. In addition, we wish to set up a special cell bank derived from white blood cells that can be stored along with the DNA sample from your child for future research studies. These studies may include testing other new genes as they are identified in future.

If you have any concerns about the conduct of this study, please do not hesitate to discuss them with Professor Christodoulou or with Anne O'Neill (telephone: 9845 1316), the secretary of the Ethics Committee which has approved this project.

(excerpt from information sheet)

For more information or to participate, please download the following PDF documents:

STK9 Information & General Consent (PDF file, 2 pages, 72KB)

STK9 Doctor Information Sheet (PDF file, 2 pages, 118KB)

STK9 Background (PDF file, 9 pages, 224KB)

STK9 DNA Consent Form (PDF file, 1 page, 80KB)

STK9 Testing Request Form (PDF file, 1 page, 89KB)

If you experience any problems downloading PDF files, try these tips.