The Search for DNA Mutations Which may Cause Smith - Magenis Syndrome: A project being undertaken at Charles Sturt University, Wagga Wagga in 2006
Aim: Smith – Magenis Syndrome (SMS) is a genetic disease characterised by physical and behavioural characteristics that arise from mutations in the RAI1 gene, and is associated with a microdeletion at 17p11.2. SMS affects approximately 1 in 15000 people, and occurs worldwide. The diagnostic test for SMS is fluorescent in situ hybridisation (FISH), however there are a group of people who exhibit the signs and symptoms of SMS, but whom are negative with FISH. This project aims to identify and analyse possible DNA mutations present in the RAI1 gene in that group.
Methods: DNA samples from 1-2 non-SMS participants and up to 20 patients who exhibit the clinical features of SMS but whom are FISH negative will be tested. Participants’ details will be treated confidentially according to the CSU Ethics and Human Research Committee guidelines. The Human Genetics Society of Australasia and SMS support groups will be contacted for recruitment of suitable patients. Each sample will be individually examined with various molecular methods such as Southern Hybridisation, DNA sequencing and PCR.
Conclusion: Early diagnosis is essential for correct treatment and early intervention for children affected by SMS. For those SMS patients who are negative by FISH, this study offers them a chance at formal recognition of having a genetic disease, making early intervention and correct treatment more accessible to them. This will allow for better emotional support for the families involved and better care for the child.
Context: This project is part of a larger collaboration of scientists at CSU working on various areas of SMS including psychological and genetic aspects.